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Carrier Screening Ashkenazi Jewish Panel
Clinical Genetic Test
Help
offered by
Ambry Genetics
GTR Test Accession: Help GTR000597629.6
INHERITED DISEASEMETABOLIC DISEASENERVOUS SYSTEM ... View more
Last updated in GTR: 2024-03-20
View version history
Last annual review date for the lab: 2024-03-22 LinkOut
At a Glance
Test purpose: Help
Screening
Conditions (51): Help
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency; Abetalipoproteinaemia; Ashkenazi Jewish disorders; ...
Genes (47): Help
ABCC8 (11p15.1), ACADM (1p31.1), ADAMTS2 (5q35.3), ASPA (17p13.2), ATP7B (13q14.3), ...
Methods (2): Help
Molecular Genetics - Deletion/duplication analysis: Next-Generation (NGS)/Massively parallel sequencing (MPS); ...
Target population: Help
Individuals family planning/currently pregnant
Clinical validity: Help
Not provided
Clinical utility: Help
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
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
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:
Lab contact for this test, Contact policy, Test strategy
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:
Clinical validity, Clinical utility, What is the protocol for interpreting a variation as a VUS?, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
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:
Test Confirmation, Assay limitations, Description of internal test validation method, Citations for Analytical validity, PT Provider, Description of PT method, Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review: Help
Category: FDA exercises enforcement discretion
Additional Information

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