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.