Biotinidase deficiency

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.