Lysosomal storage disorders

Glycogenosis

α-D-glucosidase

Disease

Glycogenosis type II (Pompe).

Description

α-D-glucosidase is the enzyme deficient in glycogen storage disease type II (Pompe's disease or acid maltase deficiency).

OMIM

232300

Price

€ 425
Price includes leukocyte isolation/fibroblast culture and measurement of a control enzyme. Each additional requested test costs 150 euro extra, with a maximum of 950 euro in total.

Method

Spectrophotometry/Fluorometry.

    Materials:


    Whole EDTA blood

    • Test material: Leukocytes.
    • Conditions: room temperature.
    • Specifics: at least 4.5 ml EDTA blood of the patient should be sent AT ROOM TEMPERATURE in clearly labeled (with name of patient and date of birth), tightly capped tubes, wrapped in protective material, placed in a sealed plastic bag and shipped by courier service in a Styrofoam shipping box. Blood samples need to arrive in our laboratory within 48 hours after drawing. Include one blood sample as a control for shipment conditions. Please complete the test request form and send it along with the sample.
    • TAT: 3 weeks.

    Cultured skin fibroblasts

    • Conditions: room temperature.
    • Specifics: grow the fibroblasts to near confluence (~ 80% confluent) in a T-25 flask, fill the flask completely with sterile buffered (with 25mM Hepes) culture medium (for example HAM or DMEM) supplemented with 10% serum and 1% penicilline-streptomycine. Cap the flasks tightly and wrap the cap with parafilm. Label the flask clearly with identifying information (name of patient and date of birth), wrap the culture flaks in protective material and place it in a sealed plastic bag in the Styrofoam shipping box and ship AT ROOM TEMPERATURE by courier service. Fibroblasts need to arrive in our laboratory within 48 hours. Please complete the test request form and send it along with the sample.
      If it is not possible to culture fibroblasts from a skin biopsy in a local institute, you can send a skin biopsy in sterile buffered (with 25mM Hepes) culture medium (for example HAM or DMEM) without serum or antibiotics AT ROOM TEMPERATURE by courier service. The skin biopsy needs to arrive in our laboratory within 48 hours. Please complete the test request form and send it along with the sample.
    • TAT: 3 months.

    Mucolipidoses

    N-acetyl-α-D-neuraminidase

    Disease

    Mucolipidosis type I, Sialidosis.

    Description

    N-acetyl-α-D-neuraminidase, also called sialidase, cleaves sialyl linkages of several oligosaccharides and glycoproteins, and is deficient in mucolipidosis type I, also known as sialidosis.

    OMIM

    256550

    Price

    € 425
    Price includes leukocyte isolation/fibroblast culture and measurement of a control enzyme. Each additional requested test costs 150 euro extra, with a maximum of 950 euro in total.

    Method

    Fluorometry

    Materials:


    Cultured skin fibroblasts

    • Conditions: room temperature.
    • Specifics: grow the fibroblasts to near confluence (~ 80% confluent) in a T-25 flask, fill the flask completely with sterile buffered (with 25mM Hepes) culture medium (for example HAM or DMEM) supplemented with 10% serum and 1% penicilline-streptomycine. Cap the flasks tightly and wrap the cap with parafilm. Label the flask clearly with identifying information (name of patient and date of birth), wrap the culture flaks in protective material and place it in a sealed plastic bag in the Styrofoam shipping box and ship AT ROOM TEMPERATURE by courier service. Fibroblasts need to arrive in our laboratory within 48 hours. Please complete the test request form and send it along with the sample.
      If it is not possible to culture fibroblasts from a skin biopsy in a local institute, you can send a skin biopsy in sterile buffered (with 25mM Hepes) culture medium (for example HAM or DMEM) without serum or antibiotics AT ROOM TEMPERATURE by courier service. The skin biopsy needs to arrive in our laboratory within 48 hours. Please complete the test request form and send it along with the sample.
    • TAT: 3 months.
    N-acetyl-β-D-glucosaminidase

    Disease

    Mucolipidosis type II en III, I-cell disease, pseudo-Hurler polydystrophy.

    Description

    Mucolipidosis type II (ML II) is caused by defects in the N-acetylglucosamine-1-phosphotransferase complex which catalyses the first step in the generation of the mannose-6-phosphate recognition marker required for targeting of soluble lysosomal proteins, including N-acetyl-ß-D-glucosaminidase, to lysosomes.

    OMIM

    256500

    Price

    € 425
    Price includes leukocyte isolation/fibroblast culture and measurement of a control enzyme. Each additional requested test costs 150 euro extra, with a maximum of 950 euro in total.

    Method

    Fluorometry

    Materials:


    Whole EDTA blood

    • Test material: Plasma.
    • Conditions: room temperature.
    • Specifics: at least 4.5 ml EDTA blood of the patient should be sent AT ROOM TEMPERATURE in clearly labeled (with name of patient and date of birth), tightly capped tubes, wrapped in protective material, placed in a sealed plastic bag and shipped by courier service in a Styrofoam shipping box. Blood samples need to arrive in our laboratory within 48 hours after drawing. Include one blood sample as a control for shipment conditions. Please complete the test request form and send it along with the sample.
    • TAT: 3 weeks.

    Cultured skin fibroblasts

    • Conditions: room temperature.
    • Specifics: grow the fibroblasts to near confluence (~ 80% confluent) in a T-25 flask, fill the flask completely with sterile buffered (with 25mM Hepes) culture medium (for example HAM or DMEM) supplemented with 10% serum and 1% penicilline-streptomycine. Cap the flasks tightly and wrap the cap with parafilm. Label the flask clearly with identifying information (name of patient and date of birth), wrap the culture flaks in protective material and place it in a sealed plastic bag in the Styrofoam shipping box and ship AT ROOM TEMPERATURE by courier service. Fibroblasts need to arrive in our laboratory within 48 hours. Please complete the test request form and send it along with the sample.
      If it is not possible to culture fibroblasts from a skin biopsy in a local institute, you can send a skin biopsy in sterile buffered (with 25mM Hepes) culture medium (for example HAM or DMEM) without serum or antibiotics AT ROOM TEMPERATURE by courier service. The skin biopsy needs to arrive in our laboratory within 48 hours. Please complete the test request form and send it along with the sample.
    • TAT: 3 months.

    Mucopolysaccharidoses

    α-L-iduronidase

    Disease

    Mucopolysaccharidosis (MPS) Type IH/IS (Hurler/Scheie).

    Description

    α-L-iduronidase is involved in the degradation of the glycosaminoglycans heparan sulfate and dermatan sulfate, and is deficient in MPS type I (Hurler, Hurler/Scheie and Scheie disease).

    OMIM

    607014 607016 607025

    Method

    Fluorometry

    Price

    € 425
    Price includes leukocyte isolation/fibroblast culture and measurement of a control enzyme. Each additional requested test costs 150 euro extra, with a maximum of 950 euro in total.

    Materials:


    Whole EDTA blood

    • Test material: Plasma.
    • Conditions: room temperature.
    • Specifics: at least 4.5 ml EDTA blood of the patient should be sent AT ROOM TEMPERATURE in clearly labeled (with name of patient and date of birth), tightly capped tubes, wrapped in protective material, placed in a sealed plastic bag and shipped by courier service in a Styrofoam shipping box. Blood samples need to arrive in our laboratory within 48 hours after drawing. Include one blood sample as a control for shipment conditions. Please complete the test request form and send it along with the sample.
    • TAT: 3 weeks.

    Cultured skin fibroblasts

    • Conditions: room temperature.
    • Specifics: grow the fibroblasts to near confluence (~ 80% confluent) in a T-25 flask, fill the flask completely with sterile buffered (with 25mM Hepes) culture medium (for example HAM or DMEM) supplemented with 10% serum and 1% penicilline-streptomycine. Cap the flasks tightly and wrap the cap with parafilm. Label the flask clearly with identifying information (name of patient and date of birth), wrap the culture flaks in protective material and place it in a sealed plastic bag in the Styrofoam shipping box and ship AT ROOM TEMPERATURE by courier service. Fibroblasts need to arrive in our laboratory within 48 hours. Please complete the test request form and send it along with the sample.
      If it is not possible to culture fibroblasts from a skin biopsy in a local institute, you can send a skin biopsy in sterile buffered (with 25mM Hepes) culture medium (for example HAM or DMEM) without serum or antibiotics AT ROOM TEMPERATURE by courier service. The skin biopsy needs to arrive in our laboratory within 48 hours. Please complete the test request form and send it along with the sample.
    • TAT: 3 months.
    Iduronate sulfatase

    Disease

    Mucopolysaccharidosis (MPS) Type II (Hunter).

    Description

    Iduronate sulfatase is involved in the degradation of the glycosaminoglycans heparan sulfate and dermatan sulfate, and is deficient in MPS type II (Hunter disease).

    OMIM

    309900

    Method

    Fluorometry

    Price

    € 650
    Price includes leukocyte isolation/fibroblast culture and measurement of a control enzyme. Each additional requested test costs 150 euro extra, with a maximum of 950 euro in total.

    Materials:


    Whole EDTA blood

    • Test material: Plasma.
    • Conditions: room temperature.
    • Specifics: at least 4.5 ml EDTA blood of the patient should be sent AT ROOM TEMPERATURE in clearly labeled (with name of patient and date of birth), tightly capped tubes, wrapped in protective material, placed in a sealed plastic bag and shipped by courier service in a Styrofoam shipping box. Blood samples need to arrive in our laboratory within 48 hours after drawing. Include one blood sample as a control for shipment conditions. Please complete the test request form and send it along with the sample.
    • TAT: 3 weeks.

    Cultured skin fibroblasts

    • Conditions: room temperature.
    • Specifics: grow the fibroblasts to near confluence (~ 80% confluent) in a T-25 flask, fill the flask completely with sterile buffered (with 25mM Hepes) culture medium (for example HAM or DMEM) supplemented with 10% serum and 1% penicilline-streptomycine. Cap the flasks tightly and wrap the cap with parafilm. Label the flask clearly with identifying information (name of patient and date of birth), wrap the culture flaks in protective material and place it in a sealed plastic bag in the Styrofoam shipping box and ship AT ROOM TEMPERATURE by courier service. Fibroblasts need to arrive in our laboratory within 48 hours. Please complete the test request form and send it along with the sample.
      If it is not possible to culture fibroblasts from a skin biopsy in a local institute, you can send a skin biopsy in sterile buffered (with 25mM Hepes) culture medium (for example HAM or DMEM) without serum or antibiotics AT ROOM TEMPERATURE by courier service. The skin biopsy needs to arrive in our laboratory within 48 hours. Please complete the test request form and send it along with the sample.
    • TAT: 3 months.
    Sulfamidase

    Disease

    Mucopolysaccharidosis (MPS) Type III A (Sanfilippo A).

    Description

    Sulfamidase, also called heparan N-sulfatase, is involved in the degradation of the glycosaminoglycan heparan sulfate, and is deficient in MPS type IIIA (Sanfilippo A disease).

    OMIM

    252900

    Method

    Fluorometry

    Price

    € 650
    Price includes leukocyte isolation/fibroblast culture and measurement of a control enzyme. Each additional requested test costs 150 euro extra, with a maximum of 950 euro in total.

    Materials:


    Whole EDTA blood

    • Test material: Leukocytes.
    • Conditions: room temperature.
    • Specifics: at least 4.5 ml EDTA blood of the patient should be sent AT ROOM TEMPERATURE in clearly labeled (with name of patient and date of birth), tightly capped tubes, wrapped in protective material, placed in a sealed plastic bag and shipped by courier service in a Styrofoam shipping box. Blood samples need to arrive in our laboratory within 48 hours after drawing. Include one blood sample as a control for shipment conditions. Please complete the test request form and send it along with the sample.
    • TAT: 3 weeks.

    Cultured skin fibroblasts

    • Conditions: room temperature.
    • Specifics: grow the fibroblasts to near confluence (~ 80% confluent) in a T-25 flask, fill the flask completely with sterile buffered (with 25mM Hepes) culture medium (for example HAM or DMEM) supplemented with 10% serum and 1% penicilline-streptomycine. Cap the flasks tightly and wrap the cap with parafilm. Label the flask clearly with identifying information (name of patient and date of birth), wrap the culture flaks in protective material and place it in a sealed plastic bag in the Styrofoam shipping box and ship AT ROOM TEMPERATURE by courier service. Fibroblasts need to arrive in our laboratory within 48 hours. Please complete the test request form and send it along with the sample.
      If it is not possible to culture fibroblasts from a skin biopsy in a local institute, you can send a skin biopsy in sterile buffered (with 25mM Hepes) culture medium (for example HAM or DMEM) without serum or antibiotics AT ROOM TEMPERATURE by courier service. The skin biopsy needs to arrive in our laboratory within 48 hours. Please complete the test request form and send it along with the sample.
    • TAT: 3 months.
    N-acetyl-α-D-glucosaminidase

    Disease

    Mucopolysaccharidosis (MPS) Type III B (Sanfilippo B).

    Description

    N-acetyl-α-D-glucosaminidase is involved in the degradation of the glycosaminoglycan heparan sulfate, and is deficient in MPS type IIIB (Sanfilippo B disease).

    OMIM

    252920

    Method

    Fluorometry

    Price

    € 450
    Price includes leukocyte isolation/fibroblast culture and measurement of a control enzyme. Each additional requested test costs 150 euro extra, with a maximum of 950 euro in total.

    Materials:


    Whole EDTA blood

    • Test material: Plasma.
    • Conditions: room temperature.
    • Specifics: at least 4.5 ml EDTA blood of the patient should be sent AT ROOM TEMPERATURE in clearly labeled (with name of patient and date of birth), tightly capped tubes, wrapped in protective material, placed in a sealed plastic bag and shipped by courier service in a Styrofoam shipping box. Blood samples need to arrive in our laboratory within 48 hours after drawing. Include one blood sample as a control for shipment conditions. Please complete the test request form and send it along with the sample.
    • TAT: 3 weeks.

    Cultured skin fibroblasts

    • Conditions: room temperature.
    • Specifics: grow the fibroblasts to near confluence (~ 80% confluent) in a T-25 flask, fill the flask completely with sterile buffered (with 25mM Hepes) culture medium (for example HAM or DMEM) supplemented with 10% serum and 1% penicilline-streptomycine. Cap the flasks tightly and wrap the cap with parafilm. Label the flask clearly with identifying information (name of patient and date of birth), wrap the culture flaks in protective material and place it in a sealed plastic bag in the Styrofoam shipping box and ship AT ROOM TEMPERATURE by courier service. Fibroblasts need to arrive in our laboratory within 48 hours. Please complete the test request form and send it along with the sample.
      If it is not possible to culture fibroblasts from a skin biopsy in a local institute, you can send a skin biopsy in sterile buffered (with 25mM Hepes) culture medium (for example HAM or DMEM) without serum or antibiotics AT ROOM TEMPERATURE by courier service. The skin biopsy needs to arrive in our laboratory within 48 hours. Please complete the test request form and send it along with the sample.
    • TAT: 3 months.
    AcetylCoA-glucosamine acetyltransferase

    Disease

    Mucopolysaccharidosis (MPS) Type III C (Sanfilippo C).

    Description

    AcetylCoA-glucosamine acetyltransferase is involved in the degradation of the glycosaminoglycan heparan sulfate, and is deficient in MPS type IIIC (Sanfilippo C disease).

    OMIM

    252930

    Method

    Fluorometry

    Price

    € 650
    Price includes leukocyte isolation/fibroblast culture and measurement of a control enzyme. Each additional requested test costs 150 euro extra, with a maximum of 950 euro in total.

    Materials:


    Whole EDTA blood

    • Test material: Leukocytes.
    • Conditions: room temperature.
    • Specifics: at least 4.5 ml EDTA blood of the patient should be sent AT ROOM TEMPERATURE in clearly labeled (with name of patient and date of birth), tightly capped tubes, wrapped in protective material, placed in a sealed plastic bag and shipped by courier service in a Styrofoam shipping box. Blood samples need to arrive in our laboratory within 48 hours after drawing. Include one blood sample as a control for shipment conditions. Please complete the test request form and send it along with the sample.
    • TAT: 3 weeks.

    Cultured skin fibroblasts

    • Conditions: room temperature.
    • Specifics: grow the fibroblasts to near confluence (~ 80% confluent) in a T-25 flask, fill the flask completely with sterile buffered (with 25mM Hepes) culture medium (for example HAM or DMEM) supplemented with 10% serum and 1% penicilline-streptomycine. Cap the flasks tightly and wrap the cap with parafilm. Label the flask clearly with identifying information (name of patient and date of birth), wrap the culture flaks in protective material and place it in a sealed plastic bag in the Styrofoam shipping box and ship AT ROOM TEMPERATURE by courier service. Fibroblasts need to arrive in our laboratory within 48 hours. Please complete the test request form and send it along with the sample.
      If it is not possible to culture fibroblasts from a skin biopsy in a local institute, you can send a skin biopsy in sterile buffered (with 25mM Hepes) culture medium (for example HAM or DMEM) without serum or antibiotics AT ROOM TEMPERATURE by courier service. The skin biopsy needs to arrive in our laboratory within 48 hours. Please complete the test request form and send it along with the sample.
    • TAT: 3 months.
    N-acetylglucosamine-6-sulfatase

    Disease

    Mucopolysaccharidosis (MPS) Type III D (Sanfilippo D).

    Description

    N-acetylglucosamine-6-sulfatase is involved in the degradation of the glycosaminoglycan heparan sulfate, and is deficient in MPS type IIID (Sanfilippo D disease).

    OMIM

    252940

    Method

    Fluorometry

    Price

    € 425
    Price includes leukocyte isolation/fibroblast culture and measurement of a control enzyme. Each additional requested test costs 150 euro extra, with a maximum of 950 euro in total.

    Materials:


    Whole EDTA blood

    • Test material: Leukocytes.
    • Conditions: room temperature.
    • Specifics: at least 4.5 ml EDTA blood of the patient should be sent AT ROOM TEMPERATURE in clearly labeled (with name of patient and date of birth), tightly capped tubes, wrapped in protective material, placed in a sealed plastic bag and shipped by courier service in a Styrofoam shipping box. Blood samples need to arrive in our laboratory within 48 hours after drawing. Include one blood sample as a control for shipment conditions. Please complete the test request form and send it along with the sample.
    • TAT: 3 weeks.

    Cultured skin fibroblasts

    • Conditions: room temperature.
    • Specifics: grow the fibroblasts to near confluence (~ 80% confluent) in a T-25 flask, fill the flask completely with sterile buffered (with 25mM Hepes) culture medium (for example HAM or DMEM) supplemented with 10% serum and 1% penicilline-streptomycine. Cap the flasks tightly and wrap the cap with parafilm. Label the flask clearly with identifying information (name of patient and date of birth), wrap the culture flaks in protective material and place it in a sealed plastic bag in the Styrofoam shipping box and ship AT ROOM TEMPERATURE by courier service. Fibroblasts need to arrive in our laboratory within 48 hours. Please complete the test request form and send it along with the sample.
      If it is not possible to culture fibroblasts from a skin biopsy in a local institute, you can send a skin biopsy in sterile buffered (with 25mM Hepes) culture medium (for example HAM or DMEM) without serum or antibiotics AT ROOM TEMPERATURE by courier service. The skin biopsy needs to arrive in our laboratory within 48 hours. Please complete the test request form and send it along with the sample.
    • TAT: 3 months.
    N-acetylgalactosamine-6-sulfatase (MPS Type IV A)

    Disease

    Mucopolysaccharidosis (MPS) Type IV A (Morquio A).

    Description

    N-acetylgalactosamine-6-sulfatase, also called galactose 6-sulfatase, is involved in the degradation of the glycosaminoglycans keratan sulfate and chondroitin 6-sulfate, and is deficient in MPS type IVA (Morquio A disease).

    OMIM

    253000

    Method

    Fluorometry

    Price

    € 425
    Price includes leukocyte isolation/fibroblast culture and measurement of a control enzyme. Each additional requested test costs 150 euro extra, with a maximum of 950 euro in total.

    Materials:


    Whole EDTA blood

    • Test material: Leukocytes.
    • Conditions: room temperature.
    • Specifics: at least 4.5 ml EDTA blood of the patient should be sent AT ROOM TEMPERATURE in clearly labeled (with name of patient and date of birth), tightly capped tubes, wrapped in protective material, placed in a sealed plastic bag and shipped by courier service in a Styrofoam shipping box. Blood samples need to arrive in our laboratory within 48 hours after drawing. Include one blood sample as a control for shipment conditions. Please complete the test request form and send it along with the sample.
    • TAT: 3 weeks.

    Cultured skin fibroblasts

    • Conditions: room temperature.
    • Specifics: grow the fibroblasts to near confluence (~ 80% confluent) in a T-25 flask, fill the flask completely with sterile buffered (with 25mM Hepes) culture medium (for example HAM or DMEM) supplemented with 10% serum and 1% penicilline-streptomycine. Cap the flasks tightly and wrap the cap with parafilm. Label the flask clearly with identifying information (name of patient and date of birth), wrap the culture flaks in protective material and place it in a sealed plastic bag in the Styrofoam shipping box and ship AT ROOM TEMPERATURE by courier service. Fibroblasts need to arrive in our laboratory within 48 hours. Please complete the test request form and send it along with the sample.
      If it is not possible to culture fibroblasts from a skin biopsy in a local institute, you can send a skin biopsy in sterile buffered (with 25mM Hepes) culture medium (for example HAM or DMEM) without serum or antibiotics AT ROOM TEMPERATURE by courier service. The skin biopsy needs to arrive in our laboratory within 48 hours. Please complete the test request form and send it along with the sample.
    • TAT: 3 months.
    β-D-galactosidase (MPS Type IV B)

    Disease

    Mucopolysaccharidosis (MPS) Type IV B (Morquio B).

    Description

    β-D-galactosidase is involved in the degradation of the glycosaminoglycan keratan sulfate, and is deficient in MPS type IV B (Morquio B disease).

    OMIM

    253010

    Method

    Fluorometry

    Price

    € 425
    Price includes leukocyte isolation/fibroblast culture and measurement of a control enzyme. Each additional requested test costs 150 euro extra, with a maximum of 950 euro in total.

    Materials:


    Whole EDTA blood

    • Test material: Leukocytes.
    • Conditions: room temperature.
    • Specifics: at least 4.5 ml EDTA blood of the patient should be sent AT ROOM TEMPERATURE in clearly labeled (with name of patient and date of birth), tightly capped tubes, wrapped in protective material, placed in a sealed plastic bag and shipped by courier service in a Styrofoam shipping box. Blood samples need to arrive in our laboratory within 48 hours after drawing. Include one blood sample as a control for shipment conditions. Please complete the test request form and send it along with the sample.
    • TAT: 3 weeks.

    Cultured skin fibroblasts

    • Conditions: room temperature.
    • Specifics: grow the fibroblasts to near confluence (~ 80% confluent) in a T-25 flask, fill the flask completely with sterile buffered (with 25mM Hepes) culture medium (for example HAM or DMEM) supplemented with 10% serum and 1% penicilline-streptomycine. Cap the flasks tightly and wrap the cap with parafilm. Label the flask clearly with identifying information (name of patient and date of birth), wrap the culture flaks in protective material and place it in a sealed plastic bag in the Styrofoam shipping box and ship AT ROOM TEMPERATURE by courier service. Fibroblasts need to arrive in our laboratory within 48 hours. Please complete the test request form and send it along with the sample.
      If it is not possible to culture fibroblasts from a skin biopsy in a local institute, you can send a skin biopsy in sterile buffered (with 25mM Hepes) culture medium (for example HAM or DMEM) without serum or antibiotics AT ROOM TEMPERATURE by courier service. The skin biopsy needs to arrive in our laboratory within 48 hours. Please complete the test request form and send it along with the sample.
    • TAT: 3 months.
    Arylsulfatase B

    Disease

    Mucopolysaccharidosis (MPS) Type VI (Maroteaux-Lamy).

    Description

    Arylsulfatase B (N-acetylgalactosamine-4-sulfate sulfatatase), is involved in the degradation of the glycosaminoglycan dermatan sulfate, and is deficient in MPS type VI (Maroteaux-Lamy disease).

    OMIM

    253200

    Method

    Fluorometry

    Price

    € 425
    Price includes leukocyte isolation/fibroblast culture and measurement of a control enzyme. Each additional requested test costs 150 euro extra, with a maximum of 950 euro in total.

    Materials:


    Whole EDTA blood

    • Test material: Leukocytes.
    • Conditions: room temperature.
    • Specifics: at least 4.5 ml EDTA blood of the patient should be sent AT ROOM TEMPERATURE in clearly labeled (with name of patient and date of birth), tightly capped tubes, wrapped in protective material, placed in a sealed plastic bag and shipped by courier service in a Styrofoam shipping box. Blood samples need to arrive in our laboratory within 48 hours after drawing. Include one blood sample as a control for shipment conditions. Please complete the test request form and send it along with the sample.
    • TAT: 3 weeks.

    Cultured skin fibroblasts

    • Conditions: room temperature.
    • Specifics: grow the fibroblasts to near confluence (~ 80% confluent) in a T-25 flask, fill the flask completely with sterile buffered (with 25mM Hepes) culture medium (for example HAM or DMEM) supplemented with 10% serum and 1% penicilline-streptomycine. Cap the flasks tightly and wrap the cap with parafilm. Label the flask clearly with identifying information (name of patient and date of birth), wrap the culture flaks in protective material and place it in a sealed plastic bag in the Styrofoam shipping box and ship AT ROOM TEMPERATURE by courier service. Fibroblasts need to arrive in our laboratory within 48 hours. Please complete the test request form and send it along with the sample.
      If it is not possible to culture fibroblasts from a skin biopsy in a local institute, you can send a skin biopsy in sterile buffered (with 25mM Hepes) culture medium (for example HAM or DMEM) without serum or antibiotics AT ROOM TEMPERATURE by courier service. The skin biopsy needs to arrive in our laboratory within 48 hours. Please complete the test request form and send it along with the sample.
    • TAT: 3 months.
    β-D-glucuronidase (MPS TypeVII)

    Disease

    Mucopolysaccharidosis (MPS) Type VII (Sly).

    Description

    β-D-glucuronidase is involved in the degradation of the glycosaminoglycans dermatan sulfate, heparan sulfate and chondroitin 4-, 6-sulfates, and is deficient in MPS type VII (Sly disease).

    OMIM

    253220

    Method

    Fluorometry

    Price

    € 425
    Price includes leukocyte isolation/fibroblast culture and measurement of a control enzyme. Each additional requested test costs 150 euro extra, with a maximum of 950 euro in total.

    Materials:


    Whole EDTA blood

    • Test material: Leukocytes.
    • Conditions: room temperature.
    • Specifics: at least 4.5 ml EDTA blood of the patient should be sent AT ROOM TEMPERATURE in clearly labeled (with name of patient and date of birth), tightly capped tubes, wrapped in protective material, placed in a sealed plastic bag and shipped by courier service in a Styrofoam shipping box. Blood samples need to arrive in our laboratory within 48 hours after drawing. Include one blood sample as a control for shipment conditions. Please complete the test request form and send it along with the sample.
    • TAT: 3 weeks.

    Cultured skin fibroblasts

    • Conditions: room temperature.
    • Specifics: grow the fibroblasts to near confluence (~ 80% confluent) in a T-25 flask, fill the flask completely with sterile buffered (with 25mM Hepes) culture medium (for example HAM or DMEM) supplemented with 10% serum and 1% penicilline-streptomycine. Cap the flasks tightly and wrap the cap with parafilm. Label the flask clearly with identifying information (name of patient and date of birth), wrap the culture flaks in protective material and place it in a sealed plastic bag in the Styrofoam shipping box and ship AT ROOM TEMPERATURE by courier service. Fibroblasts need to arrive in our laboratory within 48 hours. Please complete the test request form and send it along with the sample.
      If it is not possible to culture fibroblasts from a skin biopsy in a local institute, you can send a skin biopsy in sterile buffered (with 25mM Hepes) culture medium (for example HAM or DMEM) without serum or antibiotics AT ROOM TEMPERATURE by courier service. The skin biopsy needs to arrive in our laboratory within 48 hours. Please complete the test request form and send it along with the sample.
    • TAT: 3 months.

    Neuronal Ceroid Lipofuscinoses

    Palmitoyl-protein thioesterase

    Disease

    Neuronal Ceroid Lipofuscinose (NCL) type I / Infantile NCL.

    Description

    Palmitoyl-protein thioesterase is the enzyme deficient in neuronal ceroid lipofuscinose type1 (CLN1, infantile form of NCL).

    OMIM

    256730

    Method

    Fluorometry

    Price

    € 425
    Price includes leukocyte isolation/fibroblast culture and measurement of a control enzyme. Each additional requested test costs 150 euro extra, with a maximum of 950 euro in total.

      Materials:


      Whole EDTA blood

      • Test material: Leukocytes.
      • Conditions: room temperature.
      • Specifics: at least 4.5 ml EDTA blood of the patient should be sent AT ROOM TEMPERATURE in clearly labeled (with name of patient and date of birth), tightly capped tubes, wrapped in protective material, placed in a sealed plastic bag and shipped by courier service in a Styrofoam shipping box. Blood samples need to arrive in our laboratory within 48 hours after drawing. Include one blood sample as a control for shipment conditions. Please complete the test request form and send it along with the sample.
      • TAT: 3 weeks.

      Cultured skin fibroblasts

      • Conditions: room temperature.
      • Specifics: grow the fibroblasts to near confluence (~ 80% confluent) in a T-25 flask, fill the flask completely with sterile buffered (with 25mM Hepes) culture medium (for example HAM or DMEM) supplemented with 10% serum and 1% penicilline-streptomycine. Cap the flasks tightly and wrap the cap with parafilm. Label the flask clearly with identifying information (name of patient and date of birth), wrap the culture flaks in protective material and place it in a sealed plastic bag in the Styrofoam shipping box and ship AT ROOM TEMPERATURE by courier service. Fibroblasts need to arrive in our laboratory within 48 hours. Please complete the test request form and send it along with the sample.
        If it is not possible to culture fibroblasts from a skin biopsy in a local institute, you can send a skin biopsy in sterile buffered (with 25mM Hepes) culture medium (for example HAM or DMEM) without serum or antibiotics AT ROOM TEMPERATURE by courier service. The skin biopsy needs to arrive in our laboratory within 48 hours. Please complete the test request form and send it along with the sample.
      • TAT: 3 months.
      Tripeptidyl peptidase I

      Disease

      Neuronal Ceroid Lipofuscinose (NCL) type II / Late infantile NCL.

      Description

      Tripeptidyl peptidase I is the enzyme deficient in neuronal ceroid lipofuscinose type 2 (CLN2, late infantile form of NCL).

      OMIM

      204500

      Method

      Fluorometry

      Price

      € 425
      Price includes leukocyte isolation/fibroblast culture and measurement of a control enzyme. Each additional requested test costs 150 euro extra, with a maximum of 950 euro in total.

      Materials:


      Whole EDTA blood

      • Test material: Leukocytes.
      • Conditions: room temperature.
      • Specifics: at least 4.5 ml EDTA blood of the patient should be sent AT ROOM TEMPERATURE in clearly labeled (with name of patient and date of birth), tightly capped tubes, wrapped in protective material, placed in a sealed plastic bag and shipped by courier service in a Styrofoam shipping box. Blood samples need to arrive in our laboratory within 48 hours after drawing. Include one blood sample as a control for shipment conditions. Please complete the test request form and send it along with the sample.
      • TAT: 3 weeks.

      Cultured skin fibroblasts

      • Conditions: room temperature.
      • Specifics: grow the fibroblasts to near confluence (~ 80% confluent) in a T-25 flask, fill the flask completely with sterile buffered (with 25mM Hepes) culture medium (for example HAM or DMEM) supplemented with 10% serum and 1% penicilline-streptomycine. Cap the flasks tightly and wrap the cap with parafilm. Label the flask clearly with identifying information (name of patient and date of birth), wrap the culture flaks in protective material and place it in a sealed plastic bag in the Styrofoam shipping box and ship AT ROOM TEMPERATURE by courier service. Fibroblasts need to arrive in our laboratory within 48 hours. Please complete the test request form and send it along with the sample.
        If it is not possible to culture fibroblasts from a skin biopsy in a local institute, you can send a skin biopsy in sterile buffered (with 25mM Hepes) culture medium (for example HAM or DMEM) without serum or antibiotics AT ROOM TEMPERATURE by courier service. The skin biopsy needs to arrive in our laboratory within 48 hours. Please complete the test request form and send it along with the sample.
      • TAT: 3 months.

      Oligosaccharidoses

      α-L-fucosidase

      Disease

      Fucosidosis.

      Description

      α-L-fucosidase is involved in glycoprotein catabolism and is deficient in Fucosidosis.

      OMIM

      230000

      Method

      Fluorometry

      Price

      € 425
      Price includes leukocyte isolation/fibroblast culture and measurement of a control enzyme. Each additional requested test costs 150 euro extra, with a maximum of 950 euro in total.

      Materials:


      Whole EDTA blood

      • Test material: Leukocytes.
      • Conditions: room temperature.
      • Specifics: at least 4.5 ml EDTA blood of the patient should be sent AT ROOM TEMPERATURE in clearly labeled (with name of patient and date of birth), tightly capped tubes, wrapped in protective material, placed in a sealed plastic bag and shipped by courier service in a Styrofoam shipping box. Blood samples need to arrive in our laboratory within 48 hours after drawing. Include one blood sample as a control for shipment conditions. Please complete the test request form and send it along with the sample.
      • TAT: 3 weeks.

      Cultured skin fibroblasts

      • Conditions: room temperature.
      • Specifics: grow the fibroblasts to near confluence (~ 80% confluent) in a T-25 flask, fill the flask completely with sterile buffered (with 25mM Hepes) culture medium (for example HAM or DMEM) supplemented with 10% serum and 1% penicilline-streptomycine. Cap the flasks tightly and wrap the cap with parafilm. Label the flask clearly with identifying information (name of patient and date of birth), wrap the culture flaks in protective material and place it in a sealed plastic bag in the Styrofoam shipping box and ship AT ROOM TEMPERATURE by courier service. Fibroblasts need to arrive in our laboratory within 48 hours. Please complete the test request form and send it along with the sample.
        If it is not possible to culture fibroblasts from a skin biopsy in a local institute, you can send a skin biopsy in sterile buffered (with 25mM Hepes) culture medium (for example HAM or DMEM) without serum or antibiotics AT ROOM TEMPERATURE by courier service. The skin biopsy needs to arrive in our laboratory within 48 hours. Please complete the test request form and send it along with the sample.
      • TAT: 3 months.
      α-D-mannosidase

      Disease

      α-Mannosidosis.

      Description

      α-D-mannosidase is involved in glycoprotein catabolism and is deficient in α-Mannosidosis.

      OMIM

      609458

      Method

      Fluorometry

      Price

      € 425
      Price includes leukocyte isolation/fibroblast culture and measurement of a control enzyme. Each additional requested test costs 150 euro extra, with a maximum of 950 euro in total.

      Materials:


      Whole EDTA blood

      • Test material: Leukocytes.
      • Conditions: room temperature.
      • Specifics: at least 4.5 ml EDTA blood of the patient should be sent AT ROOM TEMPERATURE in clearly labeled (with name of patient and date of birth), tightly capped tubes, wrapped in protective material, placed in a sealed plastic bag and shipped by courier service in a Styrofoam shipping box. Blood samples need to arrive in our laboratory within 48 hours after drawing. Include one blood sample as a control for shipment conditions. Please complete the test request form and send it along with the sample.
      • TAT: 3 weeks.

      Cultured skin fibroblasts

      • Conditions: room temperature.
      • Specifics: grow the fibroblasts to near confluence (~ 80% confluent) in a T-25 flask, fill the flask completely with sterile buffered (with 25mM Hepes) culture medium (for example HAM or DMEM) supplemented with 10% serum and 1% penicilline-streptomycine. Cap the flasks tightly and wrap the cap with parafilm. Label the flask clearly with identifying information (name of patient and date of birth), wrap the culture flaks in protective material and place it in a sealed plastic bag in the Styrofoam shipping box and ship AT ROOM TEMPERATURE by courier service. Fibroblasts need to arrive in our laboratory within 48 hours. Please complete the test request form and send it along with the sample.
        If it is not possible to culture fibroblasts from a skin biopsy in a local institute, you can send a skin biopsy in sterile buffered (with 25mM Hepes) culture medium (for example HAM or DMEM) without serum or antibiotics AT ROOM TEMPERATURE by courier service. The skin biopsy needs to arrive in our laboratory within 48 hours. Please complete the test request form and send it along with the sample.
      • TAT: 3 months.
      β-D-mannosidase

      Disease

      β-Mannosidosis.

      Description

      β-D-mannosidase is involved in glycoprotein catabolism and is deficient in β-Mannosidosis.

      OMIM

      248510

      Method

      Fluorometry

      Price

      € 425
      Price includes leukocyte isolation/fibroblast culture and measurement of a control enzyme. Each additional requested test costs 150 euro extra, with a maximum of 950 euro in total.

      Materials:


      Whole EDTA blood

      • Test material: Leukocytes.
      • Conditions: room temperature.
      • Specifics: at least 4.5 ml EDTA blood of the patient should be sent AT ROOM TEMPERATURE in clearly labeled (with name of patient and date of birth), tightly capped tubes, wrapped in protective material, placed in a sealed plastic bag and shipped by courier service in a Styrofoam shipping box. Blood samples need to arrive in our laboratory within 48 hours after drawing. Include one blood sample as a control for shipment conditions. Please complete the test request form and send it along with the sample.
      • TAT: 3 weeks.

      Cultured skin fibroblasts

      • Conditions: room temperature.
      • Specifics: grow the fibroblasts to near confluence (~ 80% confluent) in a T-25 flask, fill the flask completely with sterile buffered (with 25mM Hepes) culture medium (for example HAM or DMEM) supplemented with 10% serum and 1% penicilline-streptomycine. Cap the flasks tightly and wrap the cap with parafilm. Label the flask clearly with identifying information (name of patient and date of birth), wrap the culture flaks in protective material and place it in a sealed plastic bag in the Styrofoam shipping box and ship AT ROOM TEMPERATURE by courier service. Fibroblasts need to arrive in our laboratory within 48 hours. Please complete the test request form and send it along with the sample.
        If it is not possible to culture fibroblasts from a skin biopsy in a local institute, you can send a skin biopsy in sterile buffered (with 25mM Hepes) culture medium (for example HAM or DMEM) without serum or antibiotics AT ROOM TEMPERATURE by courier service. The skin biopsy needs to arrive in our laboratory within 48 hours. Please complete the test request form and send it along with the sample.
      • TAT: 3 months.
      N-acetyl-α-D-galactosaminidase

      Disease

      Schindler / Kanzaki.

      Description

      N-acetyl-α-D-galactosaminidase cleaves terminal terminal N-acetyl-α-galactosamine from glycopeptides and glycolipids, and is deficient in Schindler and Kanzaki disease.

      OMIM

      609241

      Method

      Fluorometry

      Price

      € 425
      Price includes leukocyte isolation/fibroblast culture and measurement of a control enzyme. Each additional requested test costs 150 euro extra, with a maximum of 950 euro in total.

      Materials:


      Whole EDTA blood

      • Test material: Leukocytes.
      • Conditions: room temperature.
      • Specifics: at least 4.5 ml EDTA blood of the patient should be sent AT ROOM TEMPERATURE in clearly labeled (with name of patient and date of birth), tightly capped tubes, wrapped in protective material, placed in a sealed plastic bag and shipped by courier service in a Styrofoam shipping box. Blood samples need to arrive in our laboratory within 48 hours after drawing. Include one blood sample as a control for shipment conditions. Please complete the test request form and send it along with the sample.
      • TAT: 3 weeks.

      Cultured skin fibroblasts

      • Conditions: room temperature.
      • Specifics: grow the fibroblasts to near confluence (~ 80% confluent) in a T-25 flask, fill the flask completely with sterile buffered (with 25mM Hepes) culture medium (for example HAM or DMEM) supplemented with 10% serum and 1% penicilline-streptomycine. Cap the flasks tightly and wrap the cap with parafilm. Label the flask clearly with identifying information (name of patient and date of birth), wrap the culture flaks in protective material and place it in a sealed plastic bag in the Styrofoam shipping box and ship AT ROOM TEMPERATURE by courier service. Fibroblasts need to arrive in our laboratory within 48 hours. Please complete the test request form and send it along with the sample.
        If it is not possible to culture fibroblasts from a skin biopsy in a local institute, you can send a skin biopsy in sterile buffered (with 25mM Hepes) culture medium (for example HAM or DMEM) without serum or antibiotics AT ROOM TEMPERATURE by courier service. The skin biopsy needs to arrive in our laboratory within 48 hours. Please complete the test request form and send it along with the sample.
      • TAT: 3 months.
      Aspartylglucosaminidase

      Disease

      Aspartylglucosaminuria.

      Description

      Aspartylglucosaminidase is involved in the degradation of aspartylglucosamine containing glycopeptides, and is deficient in aspartylglucosaminuria.

      OMIM

      208400

      Method

      Fluorometry

      Price

      € 425
      Price includes leukocyte isolation/fibroblast culture and measurement of a control enzyme. Each additional requested test costs 150 euro extra, with a maximum of 950 euro in total.

      Materials:


      Whole EDTA blood

      • Test material: Leukocytes.
      • Conditions: room temperature.
      • Specifics: at least 4.5 ml EDTA blood of the patient should be sent AT ROOM TEMPERATURE in clearly labeled (with name of patient and date of birth), tightly capped tubes, wrapped in protective material, placed in a sealed plastic bag and shipped by courier service in a Styrofoam shipping box. Blood samples need to arrive in our laboratory within 48 hours after drawing. Include one blood sample as a control for shipment conditions. Please complete the test request form and send it along with the sample.
      • TAT: 3 weeks.

      Cultured skin fibroblasts

      • Conditions: room temperature.
      • Specifics: grow the fibroblasts to near confluence (~ 80% confluent) in a T-25 flask, fill the flask completely with sterile buffered (with 25mM Hepes) culture medium (for example HAM or DMEM) supplemented with 10% serum and 1% penicilline-streptomycine. Cap the flasks tightly and wrap the cap with parafilm. Label the flask clearly with identifying information (name of patient and date of birth), wrap the culture flaks in protective material and place it in a sealed plastic bag in the Styrofoam shipping box and ship AT ROOM TEMPERATURE by courier service. Fibroblasts need to arrive in our laboratory within 48 hours. Please complete the test request form and send it along with the sample.
        If it is not possible to culture fibroblasts from a skin biopsy in a local institute, you can send a skin biopsy in sterile buffered (with 25mM Hepes) culture medium (for example HAM or DMEM) without serum or antibiotics AT ROOM TEMPERATURE by courier service. The skin biopsy needs to arrive in our laboratory within 48 hours. Please complete the test request form and send it along with the sample.
      • TAT: 3 months.
      Protective protein / Cathepsine A

      Disease

      Galactosialidosis.

      Description

      Protective protein / Cathepsine A associates with β-galactosidase and neuraminidase in an enzyme complex and a deficiency leads to a combined deficiency of β-galactosidase and neuraminidase activity. This is associated with Galactosialidosis and storage of gangliosides and sialyloligosaccharides.

      OMIM

      256540

      Method

      Fluorometry

      Price

      € 650
      Price includes leukocyte isolation/fibroblast culture and measurement of a control enzyme. Each additional requested test costs 150 euro extra, with a maximum of 950 euro in total.

      Materials:


      Whole EDTA blood

      • Test material: Leukocytes.
      • Conditions: room temperature.
      • Specifics: at least 4.5 ml EDTA blood of the patient should be sent AT ROOM TEMPERATURE in clearly labeled (with name of patient and date of birth), tightly capped tubes, wrapped in protective material, placed in a sealed plastic bag and shipped by courier service in a Styrofoam shipping box. Blood samples need to arrive in our laboratory within 48 hours after drawing. Include one blood sample as a control for shipment conditions. Please complete the test request form and send it along with the sample.
      • TAT: 3 weeks.

      Cultured skin fibroblasts

      • Conditions: room temperature.
      • Specifics: grow the fibroblasts to near confluence (~ 80% confluent) in a T-25 flask, fill the flask completely with sterile buffered (with 25mM Hepes) culture medium (for example HAM or DMEM) supplemented with 10% serum and 1% penicilline-streptomycine. Cap the flasks tightly and wrap the cap with parafilm. Label the flask clearly with identifying information (name of patient and date of birth), wrap the culture flaks in protective material and place it in a sealed plastic bag in the Styrofoam shipping box and ship AT ROOM TEMPERATURE by courier service. Fibroblasts need to arrive in our laboratory within 48 hours. Please complete the test request form and send it along with the sample.
        If it is not possible to culture fibroblasts from a skin biopsy in a local institute, you can send a skin biopsy in sterile buffered (with 25mM Hepes) culture medium (for example HAM or DMEM) without serum or antibiotics AT ROOM TEMPERATURE by courier service. The skin biopsy needs to arrive in our laboratory within 48 hours. Please complete the test request form and send it along with the sample.
      • TAT: 3 months.

      Sphingolipidoses

      Arylsulfatase A

      Disease

      Metachromatic leukodystrophy.

      Description

      Arylsulfatase A (Galactosylceramide-3-sulfate sulfatase) is involved in the catabolism of sulfatides and is deficient in metachromatic leukodystrophy.

      OMIM

      250100

      Method

      Spectrophotometry

      Price

      € 425
      Price includes leukocyte isolation/fibroblast culture and measurement of a control enzyme. Each additional requested test costs 150 euro extra, with a maximum of 950 euro in total.

      Materials:


      Whole EDTA blood

      • Test material: Leukocytes.
      • Conditions: room temperature.
      • Specifics: at least 4.5 ml EDTA blood of the patient should be sent AT ROOM TEMPERATURE in clearly labeled (with name of patient and date of birth), tightly capped tubes, wrapped in protective material, placed in a sealed plastic bag and shipped by courier service in a Styrofoam shipping box. Blood samples need to arrive in our laboratory within 48 hours after drawing. Include one blood sample as a control for shipment conditions. Please complete the test request form and send it along with the sample.
      • TAT: 3 weeks.

      Cultured skin fibroblasts

      • Conditions: room temperature.
      • Specifics: grow the fibroblasts to near confluence (~ 80% confluent) in a T-25 flask, fill the flask completely with sterile buffered (with 25mM Hepes) culture medium (for example HAM or DMEM) supplemented with 10% serum and 1% penicilline-streptomycine. Cap the flasks tightly and wrap the cap with parafilm. Label the flask clearly with identifying information (name of patient and date of birth), wrap the culture flaks in protective material and place it in a sealed plastic bag in the Styrofoam shipping box and ship AT ROOM TEMPERATURE by courier service. Fibroblasts need to arrive in our laboratory within 48 hours. Please complete the test request form and send it along with the sample.
        If it is not possible to culture fibroblasts from a skin biopsy in a local institute, you can send a skin biopsy in sterile buffered (with 25mM Hepes) culture medium (for example HAM or DMEM) without serum or antibiotics AT ROOM TEMPERATURE by courier service. The skin biopsy needs to arrive in our laboratory within 48 hours. Please complete the test request form and send it along with the sample.
      • TAT: 3 months.
      Arylsulfatase A+B

      Disease

      Multiple sulfatase deficiency/ Mucosulfatidosis.

      Description

      Arylsulfatase A+B are both deficient in Multiple sulfatase deficiency, which is associated with accumulation of glycosaminoglycans, sulfatides, oligosaccharides and glycopeptides.

      OMIM

      272200

      Method

      Fluorometry

      Price

      € 425
      Price includes leukocyte isolation/fibroblast culture and measurement of a control enzyme. Each additional requested test costs 150 euro extra, with a maximum of 950 euro in total.

      Materials:


      Whole EDTA blood

      • Test material: Leukocytes.
      • Conditions: room temperature.
      • Specifics: at least 4.5 ml EDTA blood of the patient should be sent AT ROOM TEMPERATURE in clearly labeled (with name of patient and date of birth), tightly capped tubes, wrapped in protective material, placed in a sealed plastic bag and shipped by courier service in a Styrofoam shipping box. Blood samples need to arrive in our laboratory within 48 hours after drawing. Include one blood sample as a control for shipment conditions. Please complete the test request form and send it along with the sample.
      • TAT: 3 weeks.

      Cultured skin fibroblasts

      • Conditions: room temperature.
      • Specifics: grow the fibroblasts to near confluence (~ 80% confluent) in a T-25 flask, fill the flask completely with sterile buffered (with 25mM Hepes) culture medium (for example HAM or DMEM) supplemented with 10% serum and 1% penicilline-streptomycine. Cap the flasks tightly and wrap the cap with parafilm. Label the flask clearly with identifying information (name of patient and date of birth), wrap the culture flaks in protective material and place it in a sealed plastic bag in the Styrofoam shipping box and ship AT ROOM TEMPERATURE by courier service. Fibroblasts need to arrive in our laboratory within 48 hours. Please complete the test request form and send it along with the sample.
        If it is not possible to culture fibroblasts from a skin biopsy in a local institute, you can send a skin biopsy in sterile buffered (with 25mM Hepes) culture medium (for example HAM or DMEM) without serum or antibiotics AT ROOM TEMPERATURE by courier service. The skin biopsy needs to arrive in our laboratory within 48 hours. Please complete the test request form and send it along with the sample.
      • TAT: 3 months.
      α-D-galactosidase

      Disease

      Fabry.

      Description

      α-D-galactosidase is required for the degradation of trihexosylceramides and digalactosylceramides, and is deficient in Fabry disease.

      OMIM

      301500

      Method

      Fluorometry.

      Price

      € 425
      Price includes leukocyte isolation/fibroblast culture and measurement of a control enzyme. Each additional requested test costs 150 euro extra, with a maximum of 950 euro in total.

        Materials:


        Whole EDTA blood

        • Test material: Leukocytes.
        • Conditions: room temperature.
        • Specifics: at least 4.5 ml EDTA blood of the patient should be sent AT ROOM TEMPERATURE in clearly labeled (with name of patient and date of birth), tightly capped tubes, wrapped in protective material, placed in a sealed plastic bag and shipped by courier service in a Styrofoam shipping box. Blood samples need to arrive in our laboratory within 48 hours after drawing. Include one blood sample as a control for shipment conditions. Please complete the test request form and send it along with the sample.
        • TAT: 3 weeks.

        Cultured skin fibroblasts

        • Conditions: room temperature.
        • Specifics: grow the fibroblasts to near confluence (~ 80% confluent) in a T-25 flask, fill the flask completely with sterile buffered (with 25mM Hepes) culture medium (for example HAM or DMEM) supplemented with 10% serum and 1% penicilline-streptomycine. Cap the flasks tightly and wrap the cap with parafilm. Label the flask clearly with identifying information (name of patient and date of birth), wrap the culture flaks in protective material and place it in a sealed plastic bag in the Styrofoam shipping box and ship AT ROOM TEMPERATURE by courier service. Fibroblasts need to arrive in our laboratory within 48 hours. Please complete the test request form and send it along with the sample.
          If it is not possible to culture fibroblasts from a skin biopsy in a local institute, you can send a skin biopsy in sterile buffered (with 25mM Hepes) culture medium (for example HAM or DMEM) without serum or antibiotics AT ROOM TEMPERATURE by courier service. The skin biopsy needs to arrive in our laboratory within 48 hours. Please complete the test request form and send it along with the sample.
        • TAT: 3 months.
        β-D-galactosidase (GM1 gangliosidosis)

        Disease

        GM1 gangliosidosis.

        Description

        β-D-galactosidase is required for the degradation of GM1 gangliosides, galactose-containing oligosaccharides and keratan sulfate, and is deficient in GM1 gangliodisosis and Morquio B disease.

        OMIM

        230500

        Method

        Fluorometry.

        Price

        € 425
        Price includes leukocyte isolation/fibroblast culture and measurement of a control enzyme. Each additional requested test costs 150 euro extra, with a maximum of 950 euro in total.

        Materials:


        Whole EDTA blood

        • Test material: Leukocytes.
        • Conditions: room temperature.
        • Specifics: at least 4.5 ml EDTA blood of the patient should be sent AT ROOM TEMPERATURE in clearly labeled (with name of patient and date of birth), tightly capped tubes, wrapped in protective material, placed in a sealed plastic bag and shipped by courier service in a Styrofoam shipping box. Blood samples need to arrive in our laboratory within 48 hours after drawing. Include one blood sample as a control for shipment conditions. Please complete the test request form and send it along with the sample.
        • TAT: 3 weeks.

        Cultured skin fibroblasts

        • Conditions: room temperature.
        • Specifics: grow the fibroblasts to near confluence (~ 80% confluent) in a T-25 flask, fill the flask completely with sterile buffered (with 25mM Hepes) culture medium (for example HAM or DMEM) supplemented with 10% serum and 1% penicilline-streptomycine. Cap the flasks tightly and wrap the cap with parafilm. Label the flask clearly with identifying information (name of patient and date of birth), wrap the culture flaks in protective material and place it in a sealed plastic bag in the Styrofoam shipping box and ship AT ROOM TEMPERATURE by courier service. Fibroblasts need to arrive in our laboratory within 48 hours. Please complete the test request form and send it along with the sample.
          If it is not possible to culture fibroblasts from a skin biopsy in a local institute, you can send a skin biopsy in sterile buffered (with 25mM Hepes) culture medium (for example HAM or DMEM) without serum or antibiotics AT ROOM TEMPERATURE by courier service. The skin biopsy needs to arrive in our laboratory within 48 hours. Please complete the test request form and send it along with the sample.
        • TAT: 3 months.
        N-acetyl-β-D-glucosaminidase A

        Disease

        Tay-Sachs / GM2 gangliosidosis B variant.

        Description

        N-acetyl-β-D-glucosaminidase A, also called β-hexosaminidase A, is involved in degradation of GM2 gangliosides and is deficient in Tay-Sachs and Sandhoff disease/GM2 gangliosidosis B and O variants.

        OMIM

        272800

        Method

        Fluorometry

        Price

        € 425
        Price includes leukocyte isolation/fibroblast culture and measurement of a control enzyme. Each additional requested test costs 150 euro extra, with a maximum of 950 euro in total.

        Materials:


        Whole EDTA blood

        • Test material: Leukocytes.
        • Conditions: room temperature.
        • Specifics: at least 4.5 ml EDTA blood of the patient should be sent AT ROOM TEMPERATURE in clearly labeled (with name of patient and date of birth), tightly capped tubes, wrapped in protective material, placed in a sealed plastic bag and shipped by courier service in a Styrofoam shipping box. Blood samples need to arrive in our laboratory within 48 hours after drawing. Include one blood sample as a control for shipment conditions. Please complete the test request form and send it along with the sample.
        • TAT: 3 weeks.

        Cultured skin fibroblasts

        • Conditions: room temperature.
        • Specifics: grow the fibroblasts to near confluence (~ 80% confluent) in a T-25 flask, fill the flask completely with sterile buffered (with 25mM Hepes) culture medium (for example HAM or DMEM) supplemented with 10% serum and 1% penicilline-streptomycine. Cap the flasks tightly and wrap the cap with parafilm. Label the flask clearly with identifying information (name of patient and date of birth), wrap the culture flaks in protective material and place it in a sealed plastic bag in the Styrofoam shipping box and ship AT ROOM TEMPERATURE by courier service. Fibroblasts need to arrive in our laboratory within 48 hours. Please complete the test request form and send it along with the sample.
          If it is not possible to culture fibroblasts from a skin biopsy in a local institute, you can send a skin biopsy in sterile buffered (with 25mM Hepes) culture medium (for example HAM or DMEM) without serum or antibiotics AT ROOM TEMPERATURE by courier service. The skin biopsy needs to arrive in our laboratory within 48 hours. Please complete the test request form and send it along with the sample.
        • TAT: 3 months.
        N-acetyl-β-D-glucosaminidase A+B

        Disease

        Sandhoff / GM2 gangliosidosis O variant.

        Description

        N-acetyl-β-D-glucosaminidase A+B, also called β-hexosaminidase A+B, are involved in degradation of GM2 gangliosides and oligosaccharides, and are deficient in Sandhoff disease/ GM2 gangliosides O variant.

        OMIM

        268800

        Method

        Fluorometry

        Price

        € 425
        Price includes leukocyte isolation/fibroblast culture and measurement of a control enzyme. Each additional requested test costs 150 euro extra, with a maximum of 950 euro in total.

          Materials:


          Whole EDTA blood

          • Test material: Leukocytes.
          • Conditions: room temperature.
          • Specifics: at least 4.5 ml EDTA blood of the patient should be sent AT ROOM TEMPERATURE in clearly labeled (with name of patient and date of birth), tightly capped tubes, wrapped in protective material, placed in a sealed plastic bag and shipped by courier service in a Styrofoam shipping box. Blood samples need to arrive in our laboratory within 48 hours after drawing. Include one blood sample as a control for shipment conditions. Please complete the test request form and send it along with the sample.
          • TAT: 3 weeks.

          Cultured skin fibroblasts

          • Conditions: room temperature.
          • Specifics: grow the fibroblasts to near confluence (~ 80% confluent) in a T-25 flask, fill the flask completely with sterile buffered (with 25mM Hepes) culture medium (for example HAM or DMEM) supplemented with 10% serum and 1% penicilline-streptomycine. Cap the flasks tightly and wrap the cap with parafilm. Label the flask clearly with identifying information (name of patient and date of birth), wrap the culture flaks in protective material and place it in a sealed plastic bag in the Styrofoam shipping box and ship AT ROOM TEMPERATURE by courier service. Fibroblasts need to arrive in our laboratory within 48 hours. Please complete the test request form and send it along with the sample.
            If it is not possible to culture fibroblasts from a skin biopsy in a local institute, you can send a skin biopsy in sterile buffered (with 25mM Hepes) culture medium (for example HAM or DMEM) without serum or antibiotics AT ROOM TEMPERATURE by courier service. The skin biopsy needs to arrive in our laboratory within 48 hours. Please complete the test request form and send it along with the sample.
          • TAT: 3 months.
          Sphingomyelinase

          Disease

          Niemann-Pick Type A/B.

          Description

          Sphingomyelinase is required for the degradation of sphingomyelin and is deficient in Niemann-Pick type A/B.

          OMIM

          257200

          Method

          Fluorometry

          Price

          € 425
          Price includes leukocyte isolation/fibroblast culture and measurement of a control enzyme. Each additional requested test costs 150 euro extra, with a maximum of 950 euro in total.

          Materials:


          Whole EDTA blood

          • Test material: Leukocytes.
          • Conditions: room temperature.
          • Specifics: at least 4.5 ml EDTA blood of the patient should be sent AT ROOM TEMPERATURE in clearly labeled (with name of patient and date of birth), tightly capped tubes, wrapped in protective material, placed in a sealed plastic bag and shipped by courier service in a Styrofoam shipping box. Blood samples need to arrive in our laboratory within 48 hours after drawing. Include one blood sample as a control for shipment conditions. Please complete the test request form and send it along with the sample.
          • TAT: 3 weeks.

          Cultured skin fibroblasts

          • Conditions: room temperature.
          • Specifics: grow the fibroblasts to near confluence (~ 80% confluent) in a T-25 flask, fill the flask completely with sterile buffered (with 25mM Hepes) culture medium (for example HAM or DMEM) supplemented with 10% serum and 1% penicilline-streptomycine. Cap the flasks tightly and wrap the cap with parafilm. Label the flask clearly with identifying information (name of patient and date of birth), wrap the culture flaks in protective material and place it in a sealed plastic bag in the Styrofoam shipping box and ship AT ROOM TEMPERATURE by courier service. Fibroblasts need to arrive in our laboratory within 48 hours. Please complete the test request form and send it along with the sample.
            If it is not possible to culture fibroblasts from a skin biopsy in a local institute, you can send a skin biopsy in sterile buffered (with 25mM Hepes) culture medium (for example HAM or DMEM) without serum or antibiotics AT ROOM TEMPERATURE by courier service. The skin biopsy needs to arrive in our laboratory within 48 hours. Please complete the test request form and send it along with the sample.
          • TAT: 3 months.
          Filipine staining

          Disease

          Niemann-Pick Type C.

          Description

          Filipine staining is used to demonstrate lysosomal storage of unesterified cholesterol, which is present in Niemann-Pick type C due to an error in cellular trafficking of cholesterol.

          OMIM

          257200 257220

          Method

          Microscopy

          Price

          € 650
          Price includes fibroblast culture of a control.

          Materials:


          Cultured skin fibroblasts

          • Conditions: room temperature.
          • Specifics: grow the fibroblasts to near confluence (~ 80% confluent) in a T-25 flask, fill the flask completely with sterile buffered (with 25mM Hepes) culture medium (for example HAM or DMEM) supplemented with 10% serum and 1% penicilline-streptomycine. Cap the flasks tightly and wrap the cap with parafilm. Label the flask clearly with identifying information (name of patient and date of birth), wrap the culture flaks in protective material and place it in a sealed plastic bag in the Styrofoam shipping box and ship AT ROOM TEMPERATURE by courier service. Fibroblasts need to arrive in our laboratory within 48 hours. Please complete the test request form and send it along with the sample.
            If it is not possible to culture fibroblasts from a skin biopsy in a local institute, you can send a skin biopsy in sterile buffered (with 25mM Hepes) culture medium (for example HAM or DMEM) without serum or antibiotics AT ROOM TEMPERATURE by courier service. The skin biopsy needs to arrive in our laboratory within 48 hours. Please complete the test request form and send it along with the sample.
          • TAT: 3 months.
          β-D-glucosidase (Gaucher)

          Disease

          Gaucher.

          Description

          β-D-glucosidase is required for the degradation of glucocerebrosides and is deficient in Gaucher disease.

          OMIM

          230800

          Method

          Fluorometry

          Price

          € 425
          Price includes leukocyte isolation/fibroblast culture and measurement of a control enzyme. Each additional requested test costs 150 euro extra, with a maximum of 950 euro in total.

          Materials:


          Whole EDTA blood

          • Test material: Leukocytes.
          • Conditions: room temperature.
          • Specifics: at least 4.5 ml EDTA blood of the patient should be sent AT ROOM TEMPERATURE in clearly labeled (with name of patient and date of birth), tightly capped tubes, wrapped in protective material, placed in a sealed plastic bag and shipped by courier service in a Styrofoam shipping box. Blood samples need to arrive in our laboratory within 48 hours after drawing. Include one blood sample as a control for shipment conditions. Please complete the test request form and send it along with the sample.
          • TAT: 3 weeks.

          Cultured skin fibroblasts

          • Conditions: room temperature.
          • Specifics: grow the fibroblasts to near confluence (~ 80% confluent) in a T-25 flask, fill the flask completely with sterile buffered (with 25mM Hepes) culture medium (for example HAM or DMEM) supplemented with 10% serum and 1% penicilline-streptomycine. Cap the flasks tightly and wrap the cap with parafilm. Label the flask clearly with identifying information (name of patient and date of birth), wrap the culture flaks in protective material and place it in a sealed plastic bag in the Styrofoam shipping box and ship AT ROOM TEMPERATURE by courier service. Fibroblasts need to arrive in our laboratory within 48 hours. Please complete the test request form and send it along with the sample.
            If it is not possible to culture fibroblasts from a skin biopsy in a local institute, you can send a skin biopsy in sterile buffered (with 25mM Hepes) culture medium (for example HAM or DMEM) without serum or antibiotics AT ROOM TEMPERATURE by courier service. The skin biopsy needs to arrive in our laboratory within 48 hours. Please complete the test request form and send it along with the sample.
          • TAT: 3 months.
          Chitotriosidase (Gaucher)

          Disease

          Gaucher.

          Description

          Chitotriosidase in plasma is derived from activated macrophages. Chitotriosidase activity is strongly increased in Gaucher disease, but also in several other lysosomal storage disorders.

          OMIM

          230800

          Method

          Fluorometry

          Price

          € 140
          Price includes Plasma isolation and measurement of a control enzyme. Each additional requested test costs 150 euro extra, with a maximum of 950 euro in total.

          Materials:


          Plasma

          • Conditions: dry ice.
          • Specifics: 100 µl plasma from EDTA blood of the patient should be sent in clearly labeled (with name of patient and date of birth), tightly capped tubes, stored at -80°C and subsequently shipped on dry ice. Please complete the test request form and send it along with the sample.
          • TAT: 3 weeks.
          Galactocerebrosidase

          Disease

          Krabbe.

          Description

          Galactocerebrosidase is required for the degradation of galactocerebrosides and is deficient in Krabbe disease.

          OMIM

          245200

          Method

          Fluorometry

          Price

          € 425
          Price includes leukocyte isolation/fibroblast culture and measurement of a control enzyme. Each additional requested test costs 150 euro extra, with a maximum of 950 euro in total.

          Materials:


          Whole EDTA blood

          • Test material: Leukocytes.
          • Conditions: room temperature.
          • Specifics: at least 4.5 ml EDTA blood of the patient should be sent AT ROOM TEMPERATURE in clearly labeled (with name of patient and date of birth), tightly capped tubes, wrapped in protective material, placed in a sealed plastic bag and shipped by courier service in a Styrofoam shipping box. Blood samples need to arrive in our laboratory within 48 hours after drawing. Include one blood sample as a control for shipment conditions. Please complete the test request form and send it along with the sample.
          • TAT: 3 weeks.

          Cultured skin fibroblasts

          • Conditions: room temperature.
          • Specifics: grow the fibroblasts to near confluence (~ 80% confluent) in a T-25 flask, fill the flask completely with sterile buffered (with 25mM Hepes) culture medium (for example HAM or DMEM) supplemented with 10% serum and 1% penicilline-streptomycine. Cap the flasks tightly and wrap the cap with parafilm. Label the flask clearly with identifying information (name of patient and date of birth), wrap the culture flaks in protective material and place it in a sealed plastic bag in the Styrofoam shipping box and ship AT ROOM TEMPERATURE by courier service. Fibroblasts need to arrive in our laboratory within 48 hours. Please complete the test request form and send it along with the sample.
            If it is not possible to culture fibroblasts from a skin biopsy in a local institute, you can send a skin biopsy in sterile buffered (with 25mM Hepes) culture medium (for example HAM or DMEM) without serum or antibiotics AT ROOM TEMPERATURE by courier service. The skin biopsy needs to arrive in our laboratory within 48 hours. Please complete the test request form and send it along with the sample.
          • TAT: 3 months.
          Acid Lipase

          Disease

          Wolman / Cholesteryl ester storage disease.

          Description

          Acid lipase is deficient in Wolman disease and cholesteryl ester storage disease which results in accumulation of cholesteryl esters and triglycerides.

          OMIM

          278000

          Method

          Fluorometry

          Price

          € 425
          Price includes leukocyte isolation/fibroblast culture and measurement of a control enzyme. Each additional requested test costs 150 euro extra, with a maximum of 950 euro in total.

          Materials:


          Whole EDTA blood

          • Test material: Leukocytes.
          • Conditions: room temperature.
          • Specifics: at least 4.5 ml EDTA blood of the patient should be sent AT ROOM TEMPERATURE in clearly labeled (with name of patient and date of birth), tightly capped tubes, wrapped in protective material, placed in a sealed plastic bag and shipped by courier service in a Styrofoam shipping box. Blood samples need to arrive in our laboratory within 48 hours after drawing. Include one blood sample as a control for shipment conditions. Please complete the test request form and send it along with the sample.
          • TAT: 3 weeks.

          Cultured skin fibroblasts

          • Conditions: room temperature.
          • Specifics: grow the fibroblasts to near confluence (~ 80% confluent) in a T-25 flask, fill the flask completely with sterile buffered (with 25mM Hepes) culture medium (for example HAM or DMEM) supplemented with 10% serum and 1% penicilline-streptomycine. Cap the flasks tightly and wrap the cap with parafilm. Label the flask clearly with identifying information (name of patient and date of birth), wrap the culture flaks in protective material and place it in a sealed plastic bag in the Styrofoam shipping box and ship AT ROOM TEMPERATURE by courier service. Fibroblasts need to arrive in our laboratory within 48 hours. Please complete the test request form and send it along with the sample.
            If it is not possible to culture fibroblasts from a skin biopsy in a local institute, you can send a skin biopsy in sterile buffered (with 25mM Hepes) culture medium (for example HAM or DMEM) without serum or antibiotics AT ROOM TEMPERATURE by courier service. The skin biopsy needs to arrive in our laboratory within 48 hours. Please complete the test request form and send it along with the sample.
          • TAT: 3 months.