ASHKENAZI JEWISH MUTATION PANEL

Test Documentation
Components
Bloom Syndrome, Canavan Disease, Familial Dysautonomia, Fanconi Anemia Group C, Gaucher Disease, Mucolipidosis IV, Niemann-Pick Type-A Disease, Tay-Sachs

Specimen Required
Draw blood in a lavender tube and send 3.0 mL whole blood (1.0 mL minimum) refrigerated in a screw-capped plastic vial.

Alternate Specimen
Whole blood: ACD A or B

Methodology
Polymerase Chain Reaction/ASPE Bead Array

Stability
Room temperature: 72 hours; Refrigerated: 7 days; Frozen: Unacceptable

Reference Range
By report

Performed
Tuesday, Thursday

Turnaround Time10-14 days
Test CodeASHKE
CPT-4 Code (s)
81209, 81200, 81260, 81242, 81251, 81290, 81330, 81255
LOINC Codes
Ashkenazi Jewish Panel, Interpretation:   51968-6  
Ashkenazi Jewish panel, specimen:   31208-2  

Warde
Medical
Laboratory