Biotinidase deficiency Sequencing

Biotinidase deficiency is an autosomal recessively inherited disorder that results in the inability to recycle the vitamin biotin. If untreated, young children with profound biotinidase deficiency usually exhibit neurologic abnormalities including seizures, hypotonia, ataxia, developmental delay, vision problems, hearing loss, and cutaneous abnormalities (e.g., alopecia, skin rash, candidiasis). Older children and adolescents with profound biotinidase deficiency often exhibit motor limb weakness, spastic paresis, and decreased visual acuity. Once vision problems, hearing loss, and developmental delay occur, they are usually irreversible, even with biotin therapy. Individuals with partial biotinidase deficiency may have hypotonia, skin rash, and hair loss, particularly during times of stress.

Direct sequencing of BTD, the only gene known to be associated with biotinidase deficiency, can be performed by our laboratory. Detection frequency ~99%

Methodology: Sequencing of entire coding region

Purpose: Confirmation of Clinical Diagnosis

ICD-9 Code 277.6

Test Requisition: Sequencing Requisition

CPT Code: 81404 Cost: $763.00

Turn-around-time: 3-4 weeks