Order Code: 329342
CPT Codes: 81404, G0452
Indication: Carrier Screening; Clinical 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: 21 days
Specimen type: Whole blood, Blood spot
Methodology: Bidirectional sequencing analysis for all four exons and the immediately flanking intronic sequences will be used to identify mutations within the coding region of BTD gene.