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Ashkenazi Jewish Panel
Clinical Genetic Test
Help
offered by
NxGen MDx
GTR Test Accession: Help GTR000570501.1
CAP
INHERITED DISEASENERVOUS SYSTEMMETABOLIC DISEASE ... View more
Last updated in GTR: 2020-01-30
View version history
Last annual review date for the lab: 2024-07-15 LinkOut
At a Glance
Test purpose: Help
Screening
Conditions (20): Help
Cystic fibrosis; Familial dysautonomia; Fanconi anemia complementation group C more...
Genes (21): Help
ABCC8 (11p15.1); ASPA (17p13.2); BCKDHA (19q13.2); BCKDHB (6q14.1); CFTR (7q31.2) more...
Methods (3): Help
Molecular Genetics - Deletion/duplication analysis: Multiplex Ligation-dependent Probe Amplification (MLPA); ...
Target population: Help
Not provided
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
NxGen MDx
View lab's website
Who can order: Help
  • Health Care Provider
Test Order Code: Help
AJP
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:
How to Order, Specimen source, Lab contact for this test, Contact policy, Test strategy, Test development
Conditions Help
Total conditions: 20
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 21
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 3
Method Category Help
Test method Help
Instrument *
Deletion/duplication analysis
Multiplex Ligation-dependent Probe Amplification (MLPA)
Sequence analysis of select exons
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
Recommended fields not provided:
Clinical validity, 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?, Will the lab re-contact the ordering physician if variant interpretation changes?, 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
Retrospective analysis of 30,000 samples shows the designed coverage, which includes coding regions, canonical splice sites, and known intronic pathogenic variants is achieved with ≥20 read depth in the ABCC8, ASPA, BCKDHA, BCKDHB, BLM, CFTR, CLRN1, DLD, ELP1, FANCC, FKTN,GBA, G6PC, HEXA, MCOLN1, NEB, PCDH15, SMN1, SMPD1, and TMEM216 genes. … View more
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:
Test Confirmation, 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
Not provided
Additional Information

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