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90909: Maple Syrup Disease (MSUD) Mutatation Analysis (Ashkenazi Jewish) Print View
MSUD Mutation (Jewish)      
Referring Physician:      
Physician Phone #:      

PRIMARY
1 Whole Blood EDTA 4 (3) mL   Refrigerated - 8 Day(s)/Room Temperature - 8 Day(s)  
ALTERNATE
  Amniocyte Cult T25 Flask   Room Temperature - 8 Day(s)  
  Whole Blood ACD Sol A 4 (3) mL   Refrigerated - 8 Day(s)/Room Temperature - 8 Day(s)  
  Whole Blood ACD Sol B 4 (3) mL   Refrigerated - 8 Day(s)/Room Temperature - 8 Day(s)  
  Whole Blood Heparin 4 (3) mL   Refrigerated - 8 Day(s)/Room Temperature - 8 Day(s)  
  Amniotic Fluid   Room Temperature - 8 Day(s)  
  Bone Marrow   Room Temperature - 8 Day(s)  
  Bone Marrow Biopsy   Room Temperature - 8 Day(s)  
  CVS Biop 10-20mg in cult   Room Temperature - 8 Day(s)  
  DNA, extracted   Room Temperature - 8 Day(s)  
  WB EDTA Trace Metal   Room Temperature - 8 Day(s)/Refrigerated - 8 Day(s)  

1.To identify disease-causing mutations in Ashkenazi-Jewish individuals affected with Maple Syrup Urine Disease (MSUD). 2.To identify carriers in the Ashkenazi-Jewish population or in individuals with a positive family history. 3.Prenatal diagnosis of Maple Syrup Urine Disease in 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
81205

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
METHODOLOGY: Polymerase Chain Reaction, Allele specific primer extension, fluorescent detection using color coded microspheres Rejection criteria: Wrong test indication; Whole blood received frozen Transport Temperature: Room temperature






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