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Zellweger Syndrome Spectrum
Clinical Genetic Test
Help
offered by
Amsterdam UMC, Location AMC
View lab's test page
LinkOut
GTR Test Accession: Help GTR000238898.2
INHERITED DISEASEMETABOLIC DISEASENERVOUS SYSTEM ... View more
Last updated in GTR: 2021-11-24
View version history
Last annual review date for the lab: 2024-10-14 LinkOut
At a Glance
Test purpose: Help
Diagnosis; Mutation Confirmation; Risk Assessment; ...
Conditions (1): Help
Peroxisome biogenesis disorder
Genes (13): Help
PEX1 (7q21.2); PEX10 (1p36.32); PEX11B (1q21.1); PEX12 (17q12); PEX13 (2p15) more...
Methods (4): Help
Biochemical Genetics - Analyte: Metabolite levels; ...
Target population: Help
Not provided
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Amsterdam UMC, Location AMC
View lab's website
View lab's test page
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
Contact Policy: Help
Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.
How to Order: Help
Instructions including forms can be found on www.labgmd.nl
Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Confirmation of research findings
Custom Sequence Analysis
Test additional service: Help
Custom Prenatal Testing
Custom mutation-specific/Carrier testing
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
No
Pre-test genetic counseling required: Help
No
Post-test genetic counseling required: Help
No
Recommended fields not provided:
Test Order Code, Lab contact for this test, Test strategy
Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 13
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 4
Method Category Help
Test method Help
Instrument *
Analyte
Metabolite levels
Enzyme assay
Enzyme activity
Protein expression
Complementation analysis (PEX gene identification)
Sequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation; Risk Assessment; Screening
Recommended fields not provided:
Clinical validity, Clinical utility, Target population, What is the protocol for interpreting a variation as a VUS?, Are family members with defined clinical status recruited to assess significance of VUS without charge?, Will the lab re-contact the ordering physician if variant interpretation changes?, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
Technical Information
Test Comments: Help
Complementation analysis with cultured skin fibroblasts to determine affected PEX gene
Sequence analysis of PEX1, PXMP3 (PEX2), PEX3, PEX5, PEX6, PEX10, PEX11, PEX12, PEX13, PEX14, PEX16, PEX19, and PEX26
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Identification of the defective PEX gene through complementation testing performed with peroxisome-deficient fibroblasts of patients diagnosed biochemically with a Zellweger spectrum disorder is >95%. The mutation detection frequencies, based on the identification of two pathogenic mutations (compound heterozygous or homozygous) in the different PEX genes obtained by sequence analysis of … View more
Assay limitations: Help
To identify the defective PEX gene we recommend complementation testing in cultured fibroblasts of the patient. The defective PEX gene cannot be predicted on the basis of clinical and biochemical parameters. Whole gene testing includes analysis of all coding exons plus flanking intron sequences of a given PEX gene by … View more
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No
Recommended fields not provided:
Test Confirmation, Citations to support assay limitations, Description of internal test validation method, Citations for Analytical validity, PT Provider, Description of PT method, Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review: Help
Category: Not Applicable
Additional Information

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