Sign in →

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.

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 

Reference Values

An interpretive report will be provided.

Interpretation

All detected alterations are evaluated according to American College of Medical Genetics recommendations.(1) Variants are classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance.

Clinical Reference

1. Richards S, Aziz N, Bale S, et al: Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 2015 May;17(5):405-424

2. Kaye CI, Committee on Genetics, Accurso F, et al: Newborn screening fact sheets. Pediatrics 2006 Sep;118(3):e934-963

3. Moslinger D, Muhl A, Suormala T, et al: Molecular characterization and neuropsychological outcome of 21 patients with profound biotinidase deficiency detected by newborn screening and family studies. Eur J Pediatr 2003 Dec;162 Suppl 1:S46-49 Epub 2003 Nov 20

4. Nyhan WL, Barshop B, Ozand PT: Multiple carboxylase deficiency/biotinidase deficiency. In Altas of Metabolic Diseases. Second edition. New York, Oxford University Press, 2005 pp 42-48

5. Wolf B, Jensen KP, Barshop B, et al: Biotinidase deficiency: novel mutations and their biochemical and clinical correlates. Hum Mutat 2005 Apr;25(4):413

Day(s) Performed

Varies

Report Available

14 to 20 days

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. 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

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 a Biochemical Genetics Test Request (T798) with the specimen.