Molecular DNA test to confirm a diagnosis of biotinidase (BTD) deficiency when biotinidase enzymatic activity is low. To diagnose or rule out BTD deficiency, refer to Biotinidase, Serum (with Paired Normal Control) (0093362).
Polymerase Chain Reaction/Sequencing
New York DOH Approval Status
Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).
Transport 3 mL whole blood. (Min: 1 mL)
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
Background information for Biotinidase Deficiency (BTD) Sequencing:
Characteristics: Ataxia, hypotonia, developmental delay, respiratory problems, seizures, vision problems, hearing loss, alopecia, rash, candidiasis, metabolic ketolactic acidosis, organic aciduria and mild hyperammonemia.
Incidence: 1 in 60,000.
Inheritance: Autosomal recessive.
Cause: Deleterious BTD gene mutations.
Clinical Sensitivity: 99 percent.
Methodology: Bidirectional sequencing of the entire BTD coding region and intron-exon boundaries.
Analytical Sensitivity & Specificity: 99 percent.
Limitations: Diagnostic errors can occur due to rare sequence variations. Regulatory region mutations, deep intronic mutations and large deletions/duplications will not be detected.
This test was developed and its performance characteristics determined by ARUP Laboratories. It has not been cleared or approved by the US Food and Drug Administration. This test was performed in a CLIA certified laboratory and is intended for clinical purposes.
Counseling and informed consent are recommended for genetic testing. Consent forms are available online.
Laboratory Developed Test (LDT)
|Component Test Code*||Component Chart Name||LOINC|
|0051731||Biotinidase Deficiency (BTD) Sequencing||50398-7|
|2001339||BTD FGS Specimen|
- BTD mutation testing