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Ashkenazi Jewish panel
Clinical Genetic Test
Help
offered by
Molecular Genetics Laboratory
GTR Test Accession: Help GTR000558872.3
CAP
CANCERINHERITED DISEASESYNDROMIC DISEASE ... View more
Last updated in GTR: 2024-07-22
View version history
Last annual review date for the lab: 2024-07-22 LinkOut
At a Glance
Test purpose: Help
Diagnosis; Risk Assessment; Screening
Conditions (4): Help
Hereditary breast ovarian cancer syndrome; Ashkenazi Jewish disorders; Familial prostate cancer more...
Genes (7): Help
APC (5q22.2); BRCA1 (17q21.31); BRCA2 (13q13.1); CHEK2 (22q12.1); GREM1 (15q13.3) more...
Methods (1): Help
Molecular Genetics - Targeted variant analysis: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Target population: Help
Individuals with Ashkenazi Jewish genetic ancestry
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Molecular Genetics Laboratory
View lab's website
Test short name: Help
AJF
Manufacturer's name: Help
SOPHiA
Specimen Source: Help
  • Cell culture
  • Fibroblasts
  • Fresh tissue
  • Isolated DNA
  • Peripheral (whole) blood
  • Saliva
  • Skin
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
Test Order Code: Help
AJF
Contact Policy: Help
Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.
How to Order: Help
Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Informed consent required: Help
Yes
Pre-test genetic counseling required: Help
Yes
Post-test genetic counseling required: Help
Yes
Recommended fields not provided:
Lab contact for this test, Test strategy, Test development
Conditions Help
Total conditions: 4
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 7
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument
Targeted variant analysis
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Illumina NextSeq 550
Clinical Information
Test purpose: Help
Diagnosis; Risk Assessment; Screening
Target population: Help
Individuals with Ashkenazi Jewish genetic ancestry
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
Entire test performed in-house
Analytical Validity: Help
sensitivity: ~99%; specficity: 100%
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No

Method used for proficiency testing: Help
Formal PT program

PT Provider: Help
College of American Pathologists, CAP

CAP Testing Information Help
CAP/ACMG Molecular Genetics Series; BRCA1/2; MGL3
Recommended fields not provided:
Test Confirmation, Assay limitations, Description of internal test validation method, Citations for Analytical validity, Description of PT method
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.