The standard initial screening for a peroxisomal disorder
The standard initial screening for a peroxisomal disorder involves:
- Investigation of the presence/absence and morphology of peroxisomes by immunofluorescence;
- Investigation of very long-chain fatty acid metabolism;
- Depending on the indication additional tests can be performed such as single enzyme activity measurements (e.g. Dihydroxyacetonephosphate-acyltransferase, Acyl-CoA oxidase I, D-bifunctional protein, Sterol carrier protein X), immunoblot analysis or complementation analysis.
Price
€ 1055 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
Method
UPLC-UV
Price
€ 472
€ 1055 for full biochemical peroxisomal screening in cultured fibroblasts.
Test request form Enzyme diagnostics
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 (fibroblasts)
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
€ 216
€ 1055 for full biochemical peroxisomal screening in cultured fibroblasts.
Test request form Enzyme diagnostics
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
Method
Microscopy
Price
€ 1055
Test request form DNA diagnostics
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
Method
UPLC-UV
Price
€ 472
€ 1055 for full biochemical peroxisomal screening in cultured fibroblasts.
Test request form Enzyme diagnostics
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
Method
HPLC-MS/MS
Price
€ 472
€ 1055 for full biochemical peroxisomal screening in cultured fibroblasts.
Test request form Enzyme diagnostics
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
Method
Immunoblot
Price:
€ 472
€ 1055 for full biochemical peroxisomal screening in cultured fibroblasts.
Test request form Enzyme diagnostics
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 peroxisomal proteins
Disease
Zellweger spectrum disorders, ACOX1 deficiency, DBP deficiency and X-linked adrenoleukodystrophy (X-ALD)
Description
Immunofluorescence microscopy analysis with antibodies against peroxisomal proteins is used to determine whether in fibroblasts of the patient the morphology of peroxisomes is normal, whether there is normal import of peroxisomal matrix proteins (e.g. catalase) and whether peroxisomal membrane structures (ghosts) are present. The peroxisomal import system is disturbed in most Zellweger spectrum disorders and as a result 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
214100 202370 264470 261515 300100
Method
Microscopy
Price
€ 472
€ 1055 for full biochemical peroxisomal screening in cultured fibroblasts.
Test request form Enzyme diagnostics
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
Method
HPLC-UV
Price
€ 472
€ 1055 for full biochemical peroxisomal screening in cultured fibroblasts.
Test request form Enzyme diagnostics
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
€ 833
€ 1055 for full biochemical peroxisomal screening in cultured fibroblasts.
Test request form Enzyme diagnostics
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
€ 833
€ 1055 for full biochemical peroxisomal screening in cultured fibroblasts.
Test request form Enzyme diagnostics
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
€ 216
€ 1055 for full biochemical peroxisomal screening in cultured fibroblasts.
Test request form Enzyme diagnostics
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.