Ordering Recommendation

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




7-14 days

New York DOH Approval Status
This test is New York DOH approved.
Specimen Required
Patient Preparation

Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).

Specimen Preparation

Transport 3 mL whole blood. (Min: 1 mL)

Storage/Transport Temperature


Unacceptable Conditions

Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable

Reference Interval
Interpretive Data

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.
Penetrance: Unknown.
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.

Compliance Statement C: For human genetic inheritable conditions and mutations. This test was developed and its performance characteristics determined by ARUP Laboratories. The U. S. Food and Drug Administration has not approved or cleared this test; however, FDA clearance or approval is not currently required for clinical use. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions.

Counseling and informed consent are recommended for genetic testing. Consent forms are available online.

Hotline History
CPT Codes


Component Test Code* Component Chart Name LOINC
0051731 Biotinidase Deficiency (BTD) Sequencing
2001339 BTD FGS Specimen
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.
  • BTD mutation testing
Biotinidase Deficiency (BTD) Sequencing