Galactosemia

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.