Ashkenazi Jewish Diseases, 16 Genes
GTR Test Accession: Help GTR000500692.5
NYS CLEP
INHERITED DISEASEMETABOLIC DISEASENERVOUS SYSTEM ... View more
Last updated in GTR: 2025-01-03
Last annual review date for the lab: 2024-07-12 LinkOut
At a Glance
Screening
Spongy degeneration of central nervous system; Ashkenazi Jewish disorders; Bloom syndrome more...
ABCC8 (11p15.1); ASPA (17p13.2); BCKDHB (6q14.1); BLM (15q26.1); CLRN1 (3q25.1) more...
Molecular Genetics - Targeted variant analysis: Detection Primer Extension
Not provided
Not provided
Not provided
Ordering Information
Offered by: Help
ARUP Laboratories, Molecular Genetics and Genomics
View lab's website
View lab's test page
Test short name: Help
AJP
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Dentist
  • Licensed Physician
  • Nurse Practitioner
  • Physician Assistant
  • Public Health Mandate
  • Registered Nurse
Test Order Code: Help
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
Whole blood: Lavender (EDTA), pink (K 2 EDTA), or yellow (ACD solution A or B).
Fetal specimens: Cultured amniocytes: Two T-25 flasks at 80 percent confluency.
OR cultured CVS: Two T-25 flasks at 80 percent confluency.
If the client is unable to culture, order ARUP test Cytogenetics Grow and Send …
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Order URL
Test service: Help
Maternal cell contamination study (MCC)
    Comment: A maternal specimen is recommended for proper fetal test interpretation. Contact an ARUP genetic counselor to coordinate.
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:
Conditions Help
Total conditions: 17
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 16
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
Detection Primer Extension
* Instrument: Not provided
Clinical Information
Test purpose: Help
Screening
Recommended fields not provided:
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Analytical sensitivity and specificity: 99%
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Intra-Laboratory
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Not provided
NYS CLEP Approval: Help
Number: 4196
Status: Approved
Additional Information

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