Cystic fibrosis (includes ACMG recommended mutation panel)

Order Code:  217281

CPT Codes: 81220, 81224*, G0452

*81224 (Intron 8 Poly T analysis) will be billed only when:

- an individual is suspected to have cystic fibrosis, and two mutations are not identified

- the R117H mutation is present or identified

- a male patient is being tested due to a history of infertility

Indication:  Carrier Screening; Clinical Diagnosis; Prenatal Diagnosis

Required Patient Information:  Ethnicity; Personal and Family History of clinical symptoms and/or previous test results (if any); For prenatal testing: LMP date or gestational age at the time of sample collection

Turn Around Time:  7-14 days

Specimen type: Whole Blood, Amniotic Fluid, Chorionic Villi

Methodology:  PCR-based assays are used to detect the 23 mutations recommended for CF carrier screening by the American College of Medical Genetics.  Seventeen additional mutations are also detected in this assay for a total of 40.  Mutation detection rate varies based on ethnicity and are provided with each report. Intron 8 poly T analysis is performed as a reflex test when appropriate (see above).

Other Requirements: A maternal blood sample is required for all prenatal specimens.