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10913: Cystic Fibrosis Rare Variant Analysis, One Exon Print View
Ethnicity      
Cystic Fibrosis,Seq 1Exon NGS     

PRIMARY
1 Whole Blood EDTA 4 (3) mL   Room Temperature - 14 Day(s)/Refrigerated - 14 Day(s)  
ALTERNATE
  Whole Blood ACD Sol B 4 (3) mL   Room Temperature - 14 Day(s)/Refrigerated - 14 Day(s)  
  WB EDTA Trace Metal   Room Temperature - 14 Day(s)/Refrigerated - 14 Day(s)  
  Whole Blood ACD Sol A 4 (3) mL   Room Temperature - 14 Day(s)/Refrigerated - 14 Day(s)  
  Whole Blood Heparin 4 (3) mL   Refrigerated - 14 Day(s)/Room Temperature - 14 Day(s)  

Cystic fibrosis (CF) is the most common recessive lethal genetic disorder affecting primarily Caucasians of Northern European descent, with an incidence of approximately 1 in 3300 births and a carrier rate of 1 in 29. Detection of variant in one exon is useful in patients with a known familial variant that is not included in the general cystic fibrosis mutation panel.

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.
Setup Schedule
Sunday-Saturday

Reported (Analytical Time)
42 days

CPT Code
81221

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
Transport Temperature: Room temperature

Specimen Requirements
Preferred:
4 mL (3 mL minimum) whole blood collected in an EDTA (lavender-top or royal blue-top) or ACD (yellow-top) or sodium heparin (green-top)

Acceptable:
5 mL (3 mL minimum) amniotic fluid, chorionic villi, cultured amniocytes in a T-25 flask 20 mg (10 mg minimum) chorionic villus biopsy

Methodology: Next Generation Sequencing
Assay Category: Laboratory Developed Test ASR Class 1

Setup Schedule: As needed






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