Carrier Screening Ashkenazi Jewish Panel
Clinical Genetic Test
Help
offered by
GTR Test Accession: Help GTR000597629.6
INHERITED DISEASEMETABOLIC DISEASENERVOUS SYSTEM ... View more
Last updated in GTR: 2024-03-20
Last annual review date for the lab: 2024-03-22 LinkOut
At a Glance
Screening
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency; Abetalipoproteinaemia; Ashkenazi Jewish disorders more...
ABCC8 (11p15.1); ACADM (1p31.1); ADAMTS2 (5q35.3); ASPA (17p13.2); ATP7B (13q14.3) more...
Molecular Genetics - Deletion/duplication analysis: Next-Generation (NGS)/Massively parallel sequencing (MPS); ...
Individuals family planning/currently pregnant
Not provided
Not provided
Ordering Information
Offered by: Help
Ambry Genetics
View lab's website
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
  • Nurse Practitioner
Test Order Code: Help
9083
How to Order: Help
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
    OrderCode: 5555
Test development: Help
Test developed by laboratory but exempt from FDA oversight (eg. NYS CLEP approved, offered within a hospital or clinic)
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: 51
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 47
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
Screening
Target population: Help
Individuals family planning/currently pregnant
Variant Interpretation:
Are family members with defined clinical status recruited to assess significance of VUS without charge? Help
Decline to answer.

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Decline to answer.
Recommended fields not provided:
Technical Information
Availability: Help
Tests performed
Interpretation performed at an outside lab
Report generated in-house
Specimen preparation performed at an outside lab
Wet lab work performed at an outside lab

Test performance comments
.
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
No
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Category: FDA exercises enforcement discretion
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.