Preferred gene panel for carrier screening in individuals of Ashkenazi Jewish descent.
- Patient Preparation
- Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).
- Specimen Preparation
- Transport 3 mL whole blood. (Min: 1 mL)
- Storage/Transport Temperature
- Unacceptable Conditions
- Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
Inheritance: Autosomal recessive.
Clinical Sensitivity: 99 percent for Canavan, Familial Dysautonomia and Fanconi Anemia Group C; 95 percent for Bloom, Mucolipidosis IV and Niemann-Pick type A; 94 percent for Tay-Sachs, and 90 percent for Gaucher.
Methodology:Multiplex polymerase chain reaction and Detection Primer Extension.
Analytical Sensitivity and Specificity: 99 percent.
Limitations: Mutations, other than those tested on this panel, will not be detected. Diagnostic errors can occur due to rare sequence variations.
|Disease (Symbol)||Mutations Tested||Ashkenazi |
|Askenazi Carrier Rate|
after Negative Test
|Bloom Syndrome (BLM)||p.Y736Lfs (c.2207_2212delinsTAGATTC)||1/40,000||1/100||1/1,980|
|Canavan Disease (ASPA)||c.433-2A>G|
|Familial Dysautonomia (IKBKAP)||p.R696P (c.2087G>C)|
|Fanconi Anemia Group C (FANCC)||p.D23Ifs (c.67delG) c.456+4A>T||1/32,000||1/89||1/8,800|
|Gaucher Disease (GBA)||p.L29Afs (c.84dupG)|
|Mucolipidosis IV (MCOLN1)||c.406-2A>G|
|Niemann-Pick Type-A Disease (SMPD1)||p.L304P (c.911T>C)|
|Tay-Sachs (HEXA)||7.6 kb del|
p.Y427Ifs (c.1274_1277dup TATC)
Counseling and informed consent are recommended for genetic testing. Consent forms are available online.
|Component Test Code*||Component Chart Name||LOINC|
|0051417||Ashkenazi Jewish Panel, Gene 1|
|0051418||Ashkenazi Jewish Panel, Gene 2|
|0051420||Ashkenazi Jewish Panel, Interpretation||51968-6|
|2001292||Ashkenazi Jewish Panel, Specimen||31208-2|
- AJ Panel
- Bloom Syndrome
- Familial Disautonomia
- Niemann Pick