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90891: Ashkenazi Jewish Panel (11 Tests) [90891] Print View
Panel Summary      
Cystic Fibrosis      
Canavan Disease      
Gaucher Disease      
Fanconi Anemia      
Bloom Syndrome PCR     
Tay-Sachs DNA PCR     
Familial Dysautonomia      
Niemann-Pick Disease      
Mucolipidosis Type IV      
Glycogen Storage Disease      
MSUD Mutation (Jewish)      

PRIMARY
1 Whole Blood EDTA 4 (1.3) mL   Room Temperature - 8 Day(s)/Refrigerated - 8 Day(s)  
ALTERNATE
  WB EDTA Trace Metal   Room Temperature - 8 Day(s)/Refrigerated - 8 Day(s)  
  Whole Blood ACD Sol A 4 (1.3) mL   Room Temperature - 8 Day(s)/Refrigerated - 8 Day(s)  
  Whole Blood Heparin 4 (1.3) mL   Refrigerated - 8 Day(s)/Room Temperature - 8 Day(s)  

This panel consists of the diseases frequent in the Ashkenazi Jewish population that have been recommended for population based carrier screening by the American College of Obstetricians and Gynecologists (ACOG) and/or American College of Medical Genetics and Genomics (ACMG), with two additional conditions. This panel screens for cystic fibrosis, Tay-Sachs (DNA), Canavan disease, familial dysautonomia, Gaucher disease, Fanconi anemia type C, Bloom syndrome, Niemann-Pick disease type A, mucolipidosis type IV, glycogen storage disease, and maple syrup urine disease (AJ founder mutations).

Whole blood: Normal phlebotomy procedure.
Specimen stability is crucial. Store and ship ambient immediately.
Do not freeze.

*** Maximum Volume: 4.0mL [x3] ***
*** Minimum Volume: 1.3mL [x3] ***
Setup Schedule
Sunday-Saturday

Reported (Analytical Time)
7 days

CPT Code
81412

The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

Notes
**This test is not available for New York patient testing** Transport Temperature: Room temperature Reject Criteria: Received frozen Methodology: 1. Cystic Fibrosis: MULTIPLEX PCR, MPS 2. Canavan Disease: PCR, Allele specific primer extension fluorescent detection using color coded microspheres 3. Gaucher Disease: PCR, Allele specific primer extension fluorescent detection using color coded microspheres 4. Fanconi Anemia: PCR, Allele specific primer extension fluorescent detection using color coded microspheres 5. Bloom Syndrome: Polymerase Chain Reaction 6. Tay-Sachs DNA: Polymerase Chain Reaction 7. Familial Dysautonomia: PCR, Allele specific primer extension fluorescent detection using color coded microspheres 8. Niemann-Pick Disease: PCR, Allele specific primer extension, fluorescent detection using color coded microspheres 9. Mucolipidosis Type IV: PCR, Allele specific primer extension, fluorescent detection using color coded microspheres 10. Glycogen Storage Disease 11. MSUD Mutation (Jewish)






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