GeneAware Complete Panel Version 2 (Female)
Clinical Genetic Test
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offered by
GTR Test Accession: Help GTR000553929.3
INHERITED DISEASEMETABOLIC DISEASENERVOUS SYSTEM ... View more
Last updated in GTR: 2019-07-01
Last annual review date for the lab: 2023-07-21 LinkOut
At a Glance
Screening
Deficiency of hydroxymethylglutaryl-CoA lyase; 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency; Abetalipoproteinaemia; ...
ABCC8 (11p15.1), ABCD1 (Xq28), ACADM (1p31.1), ACADVL (17p13.1), ADA (20q13.12), ...
Molecular Genetics - Deletion/duplication analysis: fluorescent quantitative PCR; ...
Not provided
Not provided
Not provided
Ordering Information
Offered by: Help
Test Order Code: Help
60101
Informed consent required: Help
Decline to answer
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Conditions Help
Total conditions: 175
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 159
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 3
Method Category Help
Test method Help
Instrument *
Deletion/duplication analysis
fluorescent quantitative PCR
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Targeted variant analysis
Trinucleotide repeat by PCR or Southern Blot
* Instrument: Not provided
Clinical Information
Test purpose: Help
Screening
Recommended fields not provided:
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
The analytical validity for NGS is approximately 99%. In addition the analytical validity for deletion/duplication and targeted variance is >99%.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

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.