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90915: Glycogen Storage Disease Type Ia Mutation Analysis (Ashkenazi Jewish) Print View
Glycogen Storage Disease      
Referring Physician:      
Physician Phone #:      

PRIMARY
1 Whole Blood EDTA 5 (3) mL   Refrigerated - 8 Day(s)/Room Temperature - 8 Day(s)  
ALTERNATE
  Whole Blood ACD Sol A 5 (3) mL   Room Temperature - 8 Day(s)/Refrigerated - 8 Day(s)  
  Whole Blood ACD Sol B 5 (3) mL   Refrigerated - 8 Day(s)/Room Temperature - 8 Day(s)  
  WB EDTA Trace Metal   Room Temperature - 8 Day(s)/Refrigerated - 8 Day(s)  
  Sodium Heparin   Room Temperature - 8 Day(s)/Refrigerated - 8 Day(s)  
  Lithium Heparin   Refrigerated - 8 Day(s)/Room Temperature - 8 Day(s)  
  Source Not Given Blood   Refrigerated - 8 Day(s)/Room Temperature - 8 Day(s)  
  T-25 Flask   Room Temperature - 8 Day(s)  
  Amniotic Fluid   Room Temperature - 8 Day(s)  
  Chorionic Villus Biopsy   Room Temperature - 8 Day(s)  

1) To identify disease causing mutations in individuals affected with Glycogen Storage Disease Ia. 2) To identify carriers in high risk ethnic groups or people with positive family history. 3) Prenatal diagnosis of Glycogen Storage Disease Type Ia for at risk couples.

Whole blood: Normal phlebotomy procedure. Specimen stability is
crucial. Store and ship ambient immediately. Do not freeze.
For prenatal diagnosis with a fetal specimen: 1) parents must be
documented carriers of one of the mutations tested; 2) maternal blood
or DNA must be available; 3) contact the laboratory genetic counselor
before submission.
Amniotic fluid: Normal collection procedure. Specimen stability is
crucial. Store and ship ambient immediately. Do not refrigerate or
freeze.
Amniocyte culture: Sterile T25 flask, filled with culture medium.
Specimen stability is crucial. Store and ship ambient immediately. Do
not refrigerate or freeze.
Dissected chorionic villus (CVS) biopsy: 10-20 mg dissected chorionic
villi collected in sterile tube filled with sterile culture media.
Specimen stability is crucial. Store and ship ambient immediately. Do
not refrigerate or freeze.
FORWARD CELLS TO LABORATORY IMMEDIATELY!
Setup Schedule
Tuesday, Thursday, Saturday

Reported (Analytical Time)
6-9 days

CPT Code
81250

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 available for New York patient testing.** Methodology: Polymerase Chain Reaction, Allele specific primer extension, fluorescent detection using color coded microspheres Reject criteria: Whole blood received frozen






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