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Biotinidase Deficiency (BTD) Sequencing
0051730
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).

Mnemonic
BTD FGS
Methodology
Polymerase Chain Reaction/Sequencing
Performed
Varies
Reported
7-14 days
New York DOH Approval Status
This test is New York DOH approved.
ARUP Consult®
Disease Topics
Specimen Required
Patient Preparation
 
Collect
Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B). 
Specimen Preparation
Transport 3 mL whole blood. (Min: 1 mL) 
Storage/Transport Temperature
Refrigerated. 
Unacceptable Conditions
 
Remarks
 
Stability
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: The performance characteristics of this test were validated by ARUP Laboratories. The U.S. Food and Drug Administration (FDA) has not approved or cleared this test. However, FDA approval or clearance is currently not required for clinical use of this test. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions. ARUP is authorized under Clinical Laboratory Improvement Amendments (CLIA) and by all states to perform high-complexity testing. Counseling and informed consent are recommended for genetic testing. Consent forms are available online.

Components
Component Test Code*Component Chart NameLOINC
0051731Biotinidase Deficiency (BTD) Sequencing
2001339BTD FGS Specimen
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Aliases
  • BTD mutation testing