Ashkenazi Jewish Diseases, 16 Genes

Casandra

Casandra Test Code AR72263Version 1 (DRAFT)

Performing Lab

Lab ARUP LaboratoriesLab Test ID 0051415CPT Codes 81401, 81209, 81200, 81260, 81242, 81251, 81250, 81479, 81205, 81290, 81400, 81330, 81255

Ashkenazi Jewish Diseases, 16 Genes

Also known as: AJP

Clinical Use

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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.

Test Details

New York Approved