Ashkenazi Jewish Diseases, 16 Genes

Interpretive Data:
Background Information for Ashkenazi Jewish Diseases, 16 Genes:
Overview: This targeted panel detects 51 variants common in the Ashkenazi Jewish population associated with 16 disorders, including ABCC8-related hyperinsulinism, Bloom syndrome, Canavan disease, familial dysautonomia, Fanconi anemia group C, Gaucher disease, glycogen storage disease 1A, Joubert syndrome type 2, lipoamide dehydrogenase deficiency, maple syrup urine disease type 1B, mucolipidosis type IV, NEB-related nemaline myopathy, Niemann-Pick disease type A, Tay-Sachs disease, Usher syndrome type 1F and type 3.
Inheritance: Autosomal recessive.
Clinical Sensitivity: Among Ashkenazi Jewish individuals:
     -99 percent for Canavan disease, lipoamide dehydrogenase deficiency, familial dysautonomia, Fanconi anemia group C, glycogen storage disease type 1A, Joubert syndrome type 2, maple syrup urine disease type 1B, and NEB-related nemaline myopathy
     -98 percent for Usher syndrome type 3
     -97 percent for ABCC8-related hyperinsulinism and Bloom syndrome
     -95 percent for mucolipidosis type IV
     -94 percent for Tay-Sachs disease
     -90 percent for Gaucher disease and Niemann-Pick disease type A
     -62 percent for Usher syndrome type 1F
Methodology: Polymerase chain reaction (PCR) and fluorescence monitoring. See table below for specific variants tested.
Analytical Sensitivity and Specificity: 99 percent.
Limitations: Variants other than those tested on this panel will not be detected. Diagnostic errors can occur due to rare sequence variations.

This test was developed and its performance characteristics determined by ARUP Laboratories. It has not been cleared or approved by the US Food and Drug Administration. This test was performed in a CLIA certified laboratory and is intended for clinical purposes.

Counseling and informed consent are recommended for genetic testing. Consent forms are available online.