GTR Test Accession:
Help
GTR000500614.4
Last updated in GTR:
2018-11-15
View version history
GTR000500614.4,
last updated:
2018-11-15
GTR000500614.3,
last updated:
2018-03-06
GTR000500614.2,
last updated:
2017-01-05
GTR000500614.1,
registered in GTR:
2014-04-01
Last annual review date for the lab: 2024-04-16
LinkOut
At a Glance
Test purpose:
Help
Diagnosis
Conditions (41):
Help
Congenital hyperammonemia, type I;
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency;
Adenylosuccinate lyase deficiency
more...
Genes (60):
Help
Methods (1):
Help
Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Target population: Help
Multi-Gene Panel for 49 Treatable Metabolic Neurodegenerative disorders.
Clinical validity:
Help
Not provided
Clinical utility:
Help
Not provided
Ordering Information
Offered by:
Help
Specimen Source:
Help
- Isolated DNA
- Peripheral (whole) blood
Who can order: Help
- Genetic Counselor
- Health Care Provider
- Licensed Physician
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
Using our website
Order URL
Order URL
Test development:
Help
Test developed by laboratory (no manufacturer test name)
Informed consent required:
Help
No
Test strategy:
Help
Next Generation Sequencing of 60 genes. Low-coverage regions (<30 reads) are analysed by Sanger Sequencing.
Pre-test genetic counseling required:
Help
Yes
Post-test genetic counseling required:
Help
Yes
Recommended fields not provided:
Test Order Code,
Lab contact for this test
Conditions
Help
Total conditions: 41
Condition/Phenotype | Identifier |
---|
Test Targets
Genes
Help
Total genes: 60
Gene | Associated Condition | Germline or Somatic | Allele (Lab-provided) | Variant in NCBI |
---|
Methodology
Total methods: 1
Method Category
Help
Test method
Help
Instrument
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Illumina MiSeq
Clinical Information
Test purpose:
Help
Diagnosis
Target population:
Help
Multi-Gene Panel for 49 Treatable Metabolic Neurodegenerative disorders.
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS?
Help
The 5-classes classification method (Alamut)
The 5-classes classification method (Alamut)
Will the lab re-contact the ordering physician if variant interpretation changes?
Help
Yes.
Yes.
Recommended fields not provided:
Clinical validity,
Clinical utility,
Are family members with defined clinical status recruited to assess significance of VUS without charge?,
Is research allowed on the sample after clinical testing is complete?,
Sample negative report,
Sample positive report
Technical Information
Availability:
Help
Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
Help
This test detects >99% of described mutations in the analysed genes
Proficiency testing (PT):
Is proficiency testing performed for this test?
Help
Yes
Method used for proficiency testing: Help
Formal PT program
PT Provider: Help
European Molecular Genetics Quality Network, EMQN
Yes
Method used for proficiency testing: Help
Formal PT program
PT Provider: Help
European Molecular Genetics Quality Network, EMQN
VUS:
Software used to interpret novel variations
Help
Alamut (Interactive Biosoftware), including AGVGD, PolyPhen-2, SIFT and MutationTaster for missense predictions and MAXEntScan, NNSPLICE, GeneSplicer and Human Splicing Finder for splice predictions
Alamut (Interactive Biosoftware), including AGVGD, PolyPhen-2, SIFT and MutationTaster for missense predictions and MAXEntScan, NNSPLICE, GeneSplicer and Human Splicing Finder for splice predictions
Recommended fields not provided:
Test Confirmation,
Assay limitations,
Description of internal test validation method,
Citations for Analytical validity,
Description of PT method,
Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review:
Help
Category:
FDA exercises enforcement discretion
Additional Information
Clinical resources:
Molecular resources:
Practice guidelines:
IMPORTANT NOTE:
NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading.
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.