- 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.
Counseling and informed consent are recommended for genetic testing. Consent forms are available online.
|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)
|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
- Neiman Pick