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Clinical Genetic Test
Help
offered by
Ambry Genetics
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GTR Test Accession: Help GTR000560528.8
NYS CLEP
CAP
INHERITED DISEASECARDIOVASCULARMUSCULOSKELETAL ... View more
Last updated in GTR: 2023-04-03
View version history
Last annual review date for the lab: 2024-03-22 LinkOut
At a Glance
Test purpose: Help
Diagnosis; Pre-symptomatic
Conditions (236): Help
Glucocorticoid deficiency 5; 3-Methylglutaconic aciduria type 2; Acromicric dysplasia more...
Genes (167): Help
ABCA1 (9q31.1); ABCC9 (12p12.1); ABCG5 (2p21); ABCG8 (2p21); ACTA2 (10q23.31) more...
Methods (2): Help
Molecular Genetics - Deletion/duplication analysis: Next-Generation (NGS)/Massively parallel sequencing (MPS); ...
Target population: Help
Not provided
Clinical validity: Help
Clinical validity depends on specific clinical and family history.
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Ambry Genetics
View lab's website
View lab's test page
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
  • Nurse Practitioner
Test Order Code: Help
9520
How to Order: Help
Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
    OrderCode: 5555
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Based on applicable state law
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Lab contact for this test, Contact policy, Test strategy
Conditions Help
Total conditions: 236
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 167
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 2
Method Category Help
Test method Help
Instrument *
Deletion/duplication analysis
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Pre-symptomatic
Clinical validity: Help
Clinical validity depends on specific clinical and family history.
Variant Interpretation:
Will the lab re-contact the ordering physician if variant interpretation changes? Help
Yes.
Recommended fields not provided:
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?, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
Technical Information
Test Confirmation: Help
Single nucleotide variant calls not satisfying 100x depth of coverage and 40% het ratio thresholds are verified by Sanger sequencing (Mu W et al. J Mol Diagn. 2016 Oct 4. PubMed PMID: 27720647). Gross deletion/duplication analysis is performed for all genes using a custom pipeline based on read-depth from NGS … View more
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
This test is designed and validated to be capable of detecting >99% of described mutations in the gene(s) represented.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

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:
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
NYS CLEP Approval: Help
Number: 64701
Status: Approved
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.