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
Price
€ 472
Price includes leukocyte isolation/fibroblast culture and measurement of a control enzyme. Each additional requested test costs 167 euro extra, with a maximum of 1055 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
Price
€ 472
Price includes leukocyte isolation/fibroblast culture and measurement of a control enzyme. Each additional requested test costs 167 euro extra, with a maximum of 1055 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
Price
€ 472
Price includes leukocyte isolation/fibroblast culture and measurement of a control enzyme. Each additional requested test costs 167 euro extra, with a maximum of 1055 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
Method
Fluorometry
Price
€ 472
Price includes leukocyte isolation/fibroblast culture and measurement of a control enzyme. Each additional requested test costs 167 euro extra, with a maximum of 1055 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
Method
Fluorometry
Price
€ 722
Price includes leukocyte isolation/fibroblast culture and measurement of a control enzyme. Each additional requested test costs 167 euro extra, with a maximum of 1055 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
Method
Fluorometry
Price
€ 722
Price includes leukocyte isolation/fibroblast culture and measurement of a control enzyme. Each additional requested test costs 167 euro extra, with a maximum of 1055 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
Method
Fluorometry
Price
€ 472
Price includes leukocyte isolation/fibroblast culture and measurement of a control enzyme. Each additional requested test costs 167 euro extra, with a maximum of 1055 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
Method
Fluorometry
Price
€ 722
Price includes leukocyte isolation/fibroblast culture and measurement of a control enzyme. Each additional requested test costs 167 euro extra, with a maximum of 1055 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
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
Method
Fluorometry
Price
€ 472
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
Method
Fluorometry
Price
€ 472
Price includes leukocyte isolation/fibroblast culture and measurement of a control enzyme. Each additional requested test costs 167 euro extra, with a maximum of 1055 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
Method
Fluorometry
Price
€ 472
Price includes leukocyte isolation/fibroblast culture and measurement of a control enzyme. Each additional requested test costs 167 euro extra, with a maximum of 1055 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
Method
Fluorometry
Price
€ 472
Price includes leukocyte isolation/fibroblast culture and measurement of a control enzyme. Each additional requested test costs 167 euro extra, with a maximum of 1055 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
Method
Fluorometry
Price
€ 472
Price includes leukocyte isolation/fibroblast culture and measurement of a control enzyme. Each additional requested test costs 167 euro extra, with a maximum of 1055 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
Method
Fluorometry
Price
€ 472
Price includes leukocyte isolation/fibroblast culture and measurement of a control enzyme. Each additional requested test costs 167 euro extra, with a maximum of 1055 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
Method
Fluorometry
Price
€ 472
Price includes leukocyte isolation/fibroblast culture and measurement of a control enzyme. Each additional requested test costs 167 euro extra, with a maximum of 1055 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
Method
Fluorometry
Price
€ 472
Price includes leukocyte isolation/fibroblast culture and measurement of a control enzyme. Each additional requested test costs 167 euro extra, with a maximum of 1055 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
Method
Fluorometry
Price
€ 472
Price includes leukocyte isolation/fibroblast culture and measurement of a control enzyme. Each additional requested test costs 167 euro extra, with a maximum of 1055 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
Method
Fluorometry
Price
€ 472
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
Method
Fluorometry
Price
€ 472
Price includes leukocyte isolation/fibroblast culture and measurement of a control enzyme. Each additional requested test costs 167 euro extra, with a maximum of 1055 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
Method
Fluorometry
Price
€ 722
Price includes leukocyte isolation/fibroblast culture and measurement of a control enzyme. Each additional requested test costs 167 euro extra, with a maximum of 1055 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
Method
Spectrophotometry
Price
€ 472
Price includes leukocyte isolation/fibroblast culture and measurement of a control enzyme. Each additional requested test costs 167 euro extra, with a maximum of 1055 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
Method
Fluorometry
Price
€ 472
Price includes leukocyte isolation/fibroblast culture and measurement of a control enzyme. Each additional requested test costs 167 euro extra, with a maximum of 1055 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
Method
Fluorometry.
Price
€ 472
Price includes leukocyte isolation/fibroblast culture and measurement of a control enzyme. Each additional requested test costs 167 euro extra, with a maximum of 1055 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
Method
Fluorometry.
Price
€ 472
Price includes leukocyte isolation/fibroblast culture and measurement of a control enzyme. Each additional requested test costs 150 euro extra, with a maximum of 1055 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
Method
Fluorometry
Price
€ 472
Price includes leukocyte isolation/fibroblast culture and measurement of a control enzyme. Each additional requested test costs 167 euro extra, with a maximum of 1055 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
Method
Fluorometry
Price
€ 472
Price includes leukocyte isolation/fibroblast culture and measurement of a control enzyme. Each additional requested test costs 167 euro extra, with a maximum of 1055 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
Method
Fluorometry
Price
€ 472
Price includes leukocyte isolation/fibroblast culture and measurement of a control enzyme. Each additional requested test costs 167 euro extra, with a maximum of 1055 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
Method
Microscopy
Price
€ 722
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
Method
Fluorometry
Price
€ 472
Price includes leukocyte isolation/fibroblast culture and measurement of a control enzyme. Each additional requested test costs 167 euro extra, with a maximum of 1055 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
Method
Fluorometry
Price
€ 472
Price includes Plasma isolation and measurement of a control enzyme. Each additional requested test costs 167 euro extra, with a maximum of 1055 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
Method
Fluorometry
Price
€ 472
Price includes leukocyte isolation/fibroblast culture and measurement of a control enzyme. Each additional requested test costs 167 euro extra, with a maximum of 1055 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
Method
Fluorometry
Price
€ 472
Price includes leukocyte isolation/fibroblast culture and measurement of a control enzyme. Each additional requested test costs 167 euro extra, with a maximum of 1055 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.