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Test Code BTDZ Biotinidase Deficiency, BTD Full Gene Analysis

Useful For

Second-tier test for confirming biotinidase deficiency (indicated by biochemical testing or newborn screening)

 

Carrier testing of individuals with a family history of biotinidase deficiency, but disease-causing mutations have not been identified in an affected individual

Testing Algorithm

Amplification and DNA sequencing are utilized to test for the presence of a mutation in the BTD gene.

Method Name

Polymerase Chain Reaction (PCR) Amplification/DNA Sequencing

Reporting Name

BTD Gene, Full Gene Analysis

Specimen Type

Varies


Specimen Required


Specimen Type: Whole blood

Container/Tube:

Preferred: Lavender top (EDTA) or yellow top (ACD)

Acceptable: Any anticoagulant

Specimen Volume: 3 mL

Collection Instructions:

1. Invert several times to mix blood.

2. Send specimen in original tube.

Additional Information: Specimen preferred to arrive within 96 hours of draw.

Forms:

1. New York Clients-Informed consent is required. Please document on the request form or electronic order that a copy is on file. An Informed Consent for Genetic Testing (Supply T576) is available in Special Instructions.

2. Molecular Genetics: Biochemical Disorders Patient Information (T527) in Special Instructions


Specimen Minimum Volume

0.5 mL

Specimen Stability Information

Specimen Type Temperature Time
Varies Ambient (preferred)
  Frozen 
  Refrigerated 

Reference Values

An interpretive report will be provided.

Day(s) and Time(s) Performed

Performed weekly; Varies

Performing Laboratory

Mayo Medical Laboratories in Rochester

Test Classification

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. Food and Drug Administration.

CPT Code Information

81404-BTD (biotinidase) (eg, biotinidase deficiency), full gene sequence

LOINC Code Information

Test ID Test Order Name Order LOINC Value
BTDZ BTD Gene, Full Gene Analysis In Process

 

Result ID Test Result Name Result LOINC Value
53463 Result Summary 50397-9
53464 Result In Process
53465 Interpretation In Process
53466 Additional Information 48767-8
53467 Specimen In Process
53468 Source 31208-2
53469 Released By No LOINC Needed