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Test Code MISC2MAYOBTDZ Biotinidase Deficiency, BTD Full Gene Analysis, Varies

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


Shipping Instructions


Specimen preferred to arrive within 96 hours of draw.



Specimen Required


Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. Call 800-533-1710 for instructions for testing patients who have received a bone marrow transplant.

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.


Specimen Minimum Volume

0.5 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Varies Ambient (preferred)
  Frozen 
  Refrigerated 

Reject Due To

All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.

Reference Values

An interpretive report will be provided.

Day(s) and Time(s) Performed

Performed weekly; Varies

Performing Laboratory

Mayo Clinic 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 94242-5

 

Result ID Test Result Name Result LOINC Value
53463 Result Summary 50397-9
53464 Result 82939-0
53465 Interpretation 69047-9
53466 Additional Information 48767-8
53467 Specimen 31208-2
53468 Source 31208-2
53469 Released By 18771-6

Secondary ID

35375

Forms

1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available in Special Instructions:

-Informed Consent for Genetic Testing (T576)

-Informed Consent for Genetic Testing-Spanish (T826)

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

3. If not ordering electronically, complete, print, and send an Inborn Errors of Metabolism Test Request (T798) with the specimen.