Order Code: 321661
CPT Codes: 81401, G0452
Indication: Carrier Screening; Clinical Diagnosis; Prenatal Diagnosis
Required Patient Information: 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, Blood spot
Methodology: PCR-based assays are used to detect the 5 most common GALT mutations (Q188R, S135L, K285N and L195P and N314D [Duarte]). In addition, the LA variant is also analyzed in each specimen. These mutations in the GALT gene account for approximately 70% of mutations in a diverse United States population.
Other Requirements: A maternal blood sample is required for all prenatal specimens.