GTR Test Accession:
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GTR000322789.2
Last updated in GTR:
2021-11-24
View version history
GTR000322789.2,
last updated:
2021-11-24
GTR000322789.1,
registered in GTR:
2016-08-17
Last annual review date for the lab: 2024-10-14
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At a Glance
Test purpose:
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Diagnosis;
Mutation Confirmation;
Risk Assessment; ...
Conditions (1):
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Phytanic acid storage disease
Genes (2):
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PEX7 (6q23.3);
PHYH (10p13)
Methods (3):
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Biochemical Genetics - Analyte: Metabolite levels; ...
Target population: Help
Not provided
Clinical validity:
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Not provided
Clinical utility:
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Not provided
Ordering Information
Offered by:
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Specimen Source:
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- Amniocytes
- Cell culture
- Cell-free DNA
- Chorionic villi
- Fibroblasts
- Isolated DNA
- White blood cell prep
- View specimen requirements
Who can order: Help
- Genetic Counselor
- Health Care Provider
Contact Policy:
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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:
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Instructions including forms can be found on www.labgmd.nl
Order URL
Order URL
Test service:
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Clinical Testing/Confirmation of Mutations Identified Previously
Confirmation of research findings
Custom Sequence Analysis
Confirmation of research findings
Custom Sequence Analysis
Test additional service:
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Custom Prenatal Testing
Custom mutation-specific/Carrier testing
Custom mutation-specific/Carrier testing
Test development:
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Test developed by laboratory (no manufacturer test name)
Informed consent required:
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No
Pre-test genetic counseling required:
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No
Post-test genetic counseling required:
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No
Recommended fields not provided:
Test Order Code,
Lab contact for this test,
Test strategy
Conditions
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Total conditions: 1
Condition/Phenotype | Identifier |
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Test Targets
Genes
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Total genes: 2
Gene | Associated Condition | Germline or Somatic | Allele (Lab-provided) | Variant in NCBI |
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Methodology
Total methods: 3
Method Category
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Test method
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Instrument *
Analyte
Metabolite levels
Enzyme assay
Enzymatic levels
Sequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis
* Instrument: Not provided
Clinical Information
Test purpose:
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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
Availability:
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Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
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With our method we have identified two pathogenic mutations (compound heterozygous or homozygous) in the PHYH gene of 38 patients of a cohort of 42 non-related patients diagnosed with Refsum Disease on the basis of clinical presentation in combination with specific biochemical parameters as determined in the enzyme diagnostics section …
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Assay limitations:
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Whole gene testing includes analysis of all coding exons plus flanking intron sequences by Sanger sequencing. In principle, this method will identify all missense and nonsense mutations, small deletions, small duplications and small insertions located in the analysed fragments. The presence of large deletions or duplications, or pathogenic mutations located …
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Proficiency testing (PT):
Is proficiency testing performed for this test?
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No
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:
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Category:
Not Applicable
Additional Information
Clinical resources:
Consumer resources:
IMPORTANT NOTE:
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NIH makes no endorsements of tests or laboratories listed in GTR. GTR is not a substitute for medical advice.
Patients and consumers
with specific questions about a genetic test should contact a health care provider or a genetics professional.