Test Code BTDZ 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.
Special Instructions
Method Name
Polymerase Chain Reaction (PCR) Amplification/DNA Sequencing
Reporting Name
BTD Gene, Full Gene AnalysisSpecimen Type
VariesShipping 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) Performed
Varies
Report Available
14 to 20 daysPerforming Laboratory
Mayo Clinic Laboratories in RochesterTest Classification
This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US 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 |
NY State Approved
YesForms
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 a Biochemical Genetics Test Request (T798) with the specimen.