Ashkenazi Jewish Diseases, 16 Genes
Also known as: AJP
Use
This test is designed for carrier screening of genetic disorders that are common among individuals of Ashkenazi Jewish descent. It covers 16 disorders including Bloom syndrome, Canavan disease, familial dysautonomia, and Gaucher disease among others. The panel is crucial for individuals who are planning a pregnancy or are currently pregnant, as it assists in identifying their carrier status for these disorders, enabling informed genetic counseling and family planning decisions.
Special Instructions
Informed consent is required for genetic testing, especially for patients in New York. Genetic counseling and informed consent are recommended. Special forms linked above are necessary for New York clients.
Limitations
This panel only detects variants that are common in the Ashkenazi Jewish population and may not detect other variants. Rare sequence variations may lead to diagnostic errors. Variants outside those tested by this panel will not be detected, and it does not include cystic fibrosis (CF) carrier testing.
New York Approved
Methodology
PCR-based (PCR)
Biomarkers
LOINC Codes
- 51968-6
- 31208-2
- 48018-6
- 48004-6
- 53039-4
Result Turnaround Time
5-10 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
1 mL
Container
Lavender (EDTA), pink (K2EDTA), or yellow (ACD solution A or B) tube
Storage Instructions
Transport refrigerated
Causes for Rejection
Plasma or serum, specimens collected in sodium heparin or lithium heparin tubes, frozen specimens in glass collection tubes
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 3 days |
| Refrigerated | 1 week |
| Frozen | Unacceptable |
Other tests from different labs that may be relevant