Clinical Genetic Test
offered by
GTR Test Accession: Help GTR000569207.2
Last updated in GTR: 2020-04-23
Last annual review date for the lab: 2023-12-27 LinkOut
At a Glance
3-Methylglutaconic aciduria type 3; Achromatopsia; Agenesis of the corpus callosum with peripheral neuropathy; ...
ABCC8 (11p15.1), ACADM (1p31.1), ACADS (12q24.31), ACADVL (17p13.1), AGA (4q34.3), ...
Molecular Genetics - Deletion/duplication analysis: RT-qPCR; ...
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Ordering Information
Offered by: Help
Test short name: Help
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
  • Nurse Practitioner
  • Registered Nurse
Contact Policy: Help
Post-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
How to Order: Help
Test service: Help
Genetic counseling
Test additional service: Help
Custom mutation-specific/Carrier testing
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
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: 112
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 110
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Total methods: 3
Method Category Help
Test method Help
Deletion/duplication analysis
Applied Biosystems ViiA7 Real-Time PCR System
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Illumina HiSeq™2000 system
Targeted variant analysis
Tetra-nucleotide repeat by PCR or Southern Blot
Applied Biosystems 3730 capillary sequencing instrument
Clinical Information
Test purpose: Help
Recommended fields not provided:
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
The analytical performance validity of the Counsyl test has been rigorously confirmed by an internal publication (accuracy >.99997; sensitivity >.9997; specificity >.99996).
Proficiency testing (PT):
Is proficiency testing performed for this test? Help

Method used for proficiency testing: Help
Formal PT program

PT Provider: Help
American College of Medical Genetics / College of American Pathologists, ACMG/CAP
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Category: FDA exercises enforcement discretion
NYS CLEP Approval: Help
Number: 38489
Status: Pending
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.