Peroxisomal defects (PDs)

The standard initial screening for a peroxisomal disorder

The standard initial screening for a peroxisomal disorder involves:

1) Investigation of the presence/absence and morphology of peroxisomes by catalase immunofluorescence;
2) very long-chain fatty acid analysis, and
3) DHAPAT activity measurement (dihydroxyacetonephosphate-acyltransferase, the first enzyme in the plasmalogen biosynthesis route). The results will indicate whether or not the patient suffers from a peroxisome biogenesis disorders or an isolated peroxisomal beta-oxidation deficiency. Additional tests can be performed, including peroxisomal alpha- and beta-oxidation activities or single enzyme activity measurements (e.g. Acyl-CoA oxidase I, D-bifunctional protein, Sterol carrier protein X).

Price

€ 950 for full biochemical peroxisomal screening in cultured fibroblasts.

Material:


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.
Acyl-CoA oxidase 1 (ACOX1)

Disease

Acyl-CoA oxidase 1 deficiency.

Description

Acyl-CoA oxidase 1 (ACOX1) is the first enzyme of the peroxisomal beta-oxidation pathway for straight-chain fatty acids.

OMIM

264470

Method

UPLC-UV

Price

€ 425
€ 950 for full biochemical peroxisomal screening in cultured fibroblasts.

    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.
    C26:0-Lyso-PC

    Disease

    Zellweger spectrum disorders, ACOX1 deficiency, DBP deficiency, X-linked adrenoleukodystrophy (X-ALD) and ACBD5 deficiency.

    Description

    C26lysoPC is a marker for very long-chain fatty acid accumulation in phospholipid fraction and is increased in Zellweger spectrum disorders, ACOX1 deficiency, DBP deficiency, X-linked adrenoleukodystrophy and ACBD5 deficiency.

    OMIM

    214100  202370  264470  261515  300100

    Method

    HPLC-MS/MS

    Price

    € 140
    € 950 for full biochemical peroxisomal screening in cultured fibroblasts.

    Materials:


    Cultured skin fibroblasts

    • Conditions: Room temperature.
    • Specifics:Grow the 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  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.
    Complementation testing

    Disease

    Zellweger spectrum disorders.

    Description

    Complementation testing is used to determine the defective PEX gene in fibroblasts from Zellweger spectrum disorder patients. Zellweger Spectrum disorders include Zellweger Syndrome, Neonatal AdrenoLeukoDystrophy (NALD) and Infantile Refsum Disease (IRD) and can be caused by mutations in any of at least 13 different PEX genes resulting in a defect in peroxisome biogenesis. Please note that before complementation testing can be performed, peroxisome deficiency has to be confirmed by catalase immunofluorescence microscopy analyses. After identification of the defective PEX gene by complementation analysis, molecular analysis of the candidate PEX gene is performed by our DNA diagnostic section.

    OMIM

    214100 202370

    Method

    Microscopy

    Price

    € 680

    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.
    D-Bifunctional protein (DBP/MFP2)

    Disease

    DBP deficiency.

    Description

    D-Bifunctional protein (DBP/MFP2) catalyzes the second and third step of the peroxisomal beta-oxidation of straight-chain fatty acids and branched-chain fatty acids, including pristanic acid and C27-bile acid intermediates.

    OMIM

    261515

    Method

    UPLC-UV

    Price

    € 425
    € 950 for full biochemical peroxisomal screening in cultured fibroblasts.

    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.

    Whole EDTA blood

    • Test material: Peripheral blood mononuclear cells isolated from whole blood.
    • 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.
    Dihydroxyacetone-phosphate acyltransferase (DHAPAT)

    Disease

    RCDP type 1, 2 and 5, and Zellweger spectrum disorders.

    Description

    Dihydroxyacetonephosphate-acyltransferase (DHAPAT) is the first enzyme in the etherphospholipid (plasmalogen) biosynthesis route. DHAPAT activity is deficient in rhizomelic chondrodysplasia punctata (RCDP) type 1 (PEX7 defect), type 2 (DHAPAT defect) and type 5 (PEX5L defect), as well as in Zellweger spectrum disorders.

    OMIM

    215100 214100 202370 222765

    Method

    HPLC-MS/MS

    Price

    € 425
    € 950 for full biochemical peroxisomal screening in cultured fibroblasts.

    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.
    Immunoblot peroxisomal proteins

    Disease

    Peroxisome biogenesis disorders.

    Description

    Immunoblot peroxisomal proteins is used to determine the presence and peroxisomal processing of different peroxisomal proteins. Processing of ACOX1 and peroxisomal thiolase is abnormal in Zellweger spectrum disorders, whereas in rhizomelic chondrodysplasia punctata (RCDP) type 1 only processing of peroxisomal thiolase is abnormal.

    OMIM

    214100 202370 215100

    Method

    Immunoblot

    Price:

    € 425
    € 950 for full biochemical peroxisomal screening in cultured fibroblasts.

    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.
    Immunofluorescence ALD-protein (ALDP)

    Disease

    X-linked adrenoleukodystrophy (X-ALD), Zellweger spectrum disorders.

    Description

    Immunofluorescence ALD-protein (ALDP) is used to determine the presence of ALDP in the peroxisomal membrane. ALDP can be absent in X-linked adrenoleukodystrophy. For Zellweger spectrum disorders ALDP immunofluorescence is used to investigate whether peroxisomal membrane structures (ghosts) are present.

    OMIM

    300100 214100 202370

    Method

    Microscopy

    Price

    € 425
    € 950 for full biochemical peroxisomal screening in cultured fibroblasts.

    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.
    Immunofluorescence catalase

    Disease

    Zellweger spectrum disorders, ACOX1 deficiency and DBP deficiency.

    Description

    Immunofluorescence catalase is used to determine whether catalase import-competent peroxisomes are present and have a normal morphology. In Zellweger spectrum disorders catalase staining is generally cytosolic. Peroxisomal morphology can be also abnormal in Zellweger spectrum disorders and a subset of peroxisomal fatty acid oxidation defects (i.e. ACOX1 deficiency and DBP deficiency).

    OMIM

    Method

    Microscopy

    Price

    € 425
    € 950 for full biochemical peroxisomal screening in cultured fibroblasts.

    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.
    Peroxisomal thiolase branched-chain specific (SCPx)

    Disease

    SCPx deficiency.

    Description

    Peroxisomal thiolase branched-chain specific (SCPx) catalyzes the last step of the peroxisomal beta-oxidation of branched-chain fatty acids, including pristanic acid and C27-bile acid intermediates.

    OMIM

    184755

    Method

    HPLC-UV

    Price

    € 425
    € 950 for full biochemical peroxisomal screening in cultured fibroblasts.

    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.
    Peroxisomal β-oxidation

    Disease

    Zellweger spectrum disorders , ACOX1 deficiency, DBP deficiency, AMACR deficiency, X-linked adrenoleukodystrophy (X-ALD) and SCPx deficiency.

    Description

    Fatty acid beta-oxidation is measured with radiolabeled C26:0 and pristanic acid, or a D3C22:0 loading test is performed. Beta-oxidation of very long-chain fatty acids (C22-C26) is deficient in Zellweger spectrum disorders, ACOX1 deficiency and DBP deficiency. Pristanic acid beta-oxidation is deficient in Zellweger spectrum disorders and DBP deficiency, and partially deficient in AMACR deficiency and SCPx deficiency.

    OMIM

    214100 202370 264470 261515 604489 184755

    Method

    Radiochemistry

    Price

    € 750
    € 950 for full biochemical peroxisomal screening in cultured fibroblasts.

    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.
    Phytanic acid α-oxidation

    Disease

    Refsum disease, rhizomelic chondrodysplasia punctata (RCDP) type 1 and Zellweger spectrum disorders.

    Description

    Fatty acid alpha-oxidation is measured with radiolabeled phytanic acid, and is deficient in Refsum disease (phytanoyl-CoA hydroxylase deficiency) as well as in rhizomelic chondrodysplasia punctata (RCDP) type 1 (PEX7 defect) and in Zellweger spectrum disorders.

    OMIM

    Method

    Radiochemistry

    Price

    € 750
    € 950 for full biochemical peroxisomal screening in cultured fibroblasts.

    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.
    Plasmalogens

    Disease

    RCDP type 1-5, Zellweger spectrum disorder.

    Description

    Plasmalogens are reduced in rhizomelic chondrodyplasia punctata (RCDP) type 1 (PEX7 defect), type 2 (DHAPAT), type 3 (alkyl DHAP synthase), type 4 (fatty acyl-CoA reductase 1 deficiency), type 5 (PEX5L defect) and Zellweger spectrum disorders.

    OMIM

    215100 222765 214100 202370 600121 616154 616716

    Method

    GC-FID

    Price

    € 140
    € 950 for full biochemical peroxisomal screening in cultured fibroblasts.

    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.
    Very long-chain fatty acid analysis

    Disease

    Zellweger spectrum disorders, ACOX1 deficiency, DBP deficiency, X-linked adrenoleukodystrophy (X-ALD).

    Description

    Very long-chain fatty acids are increased in Zellweger spectrum disorders, ACOX1 deficiency, DBP deficiency and X-linked adrenoleukodystrophy.

    OMIM

    214100 202370 264470 261515 300100

    Method

    GC-MS

    Price

    € 140
    € 950 for full biochemical peroxisomal screening in cultured fibroblasts.

    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.