BTD Gene, Full Gene Analysis
GTR Test Accession: Help GTR000522558.4
CAP
NUTRITIONAL DISEASENERVOUS SYSTEMINHERITED DISEASE ... View more
Last updated in GTR: 2024-05-24
Last annual review date for the lab: 2023-05-30 LinkOut
At a Glance
Diagnosis; Mutation Confirmation; Risk Assessment; ...
Biotinidase deficiency
Genes (1): Help
BTD (3p25.1)
Molecular Genetics - Sequence analysis of the entire coding region: Bi-directional Sanger Sequence Analysis
Individuals with reduced biotinidase enzyme activity suggestive of Biotinidase deficiency.
Not provided
Establish or confirm diagnosis; Lifestyle planning; Reproductive decision-making
Ordering Information
Offered by: Help
Test short name: Help
BTDZ
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Dentist
  • Licensed Physician
  • Nurse Practitioner
  • Physician Assistant
  • Public Health Mandate
  • Registered Nurse
Test Order Code: Help
CPT codes: Help
**AMA CPT codes notice
Contact Policy: Help
Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.
How to Order: Help
https://www.mayocliniclabs.com/test-catalog/Specimen/35375
Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
    OrderCode: FMTT
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Based on applicable state law
Test strategy: Help
Useful for identifying mutations in patients who have a biochemical diagnosis of biotinidase or individuals with a family history of biotinidase deficiency, but disease-causing mutations have not been identified in an affected individual
Pre-test genetic counseling required: Help
No
Post-test genetic counseling required: Help
No
Recommended fields not provided:
Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 1
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument
Sequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis
Applied Biosystems 3730 capillary sequencing instrument
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation; Risk Assessment; Screening
Clinical utility: Help
Establish or confirm diagnosis
View citations (1)
  • Möslinger D, Mühl A, Suormala T, Baumgartner R, Stöckler-Ipsiroglu S. Molecular characterisation and neuropsychological outcome of 21 patients with profound biotinidase deficiency detected by newborn screening and family studies. Eur J Pediatr. 2003;162 Suppl 1:S46-9. doi:10.1007/s00431-003-1351-3. Epub 2003 Nov 20. PMID: 14628140.

Lifestyle planning
View citations (1)
  • Möslinger D, Mühl A, Suormala T, Baumgartner R, Stöckler-Ipsiroglu S. Molecular characterisation and neuropsychological outcome of 21 patients with profound biotinidase deficiency detected by newborn screening and family studies. Eur J Pediatr. 2003;162 Suppl 1:S46-9. doi:10.1007/s00431-003-1351-3. Epub 2003 Nov 20. PMID: 14628140.

Reproductive decision-making
View citations (1)
  • Möslinger D, Mühl A, Suormala T, Baumgartner R, Stöckler-Ipsiroglu S. Molecular characterisation and neuropsychological outcome of 21 patients with profound biotinidase deficiency detected by newborn screening and family studies. Eur J Pediatr. 2003;162 Suppl 1:S46-9. doi:10.1007/s00431-003-1351-3. Epub 2003 Nov 20. PMID: 14628140.

Target population: Help
Individuals with reduced biotinidase enzyme activity suggestive of Biotinidase deficiency.
View citations (1)
  • Möslinger D, Mühl A, Suormala T, Baumgartner R, Stöckler-Ipsiroglu S. Molecular characterisation and neuropsychological outcome of 21 patients with profound biotinidase deficiency detected by newborn screening and family studies. Eur J Pediatr. 2003;162 Suppl 1:S46-9. doi:10.1007/s00431-003-1351-3. Epub 2003 Nov 20. PMID: 14628140.
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
All detected variants are evaluated according to the most recent American College of Medical Genetics and Genomics (ACMG) and Association for Molecular Pathology (AMP) recommendations. Variants are classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance.

Are family members with defined clinical status recruited to assess significance of VUS without charge? Help
Yes. Contact lab for details.

Will the lab re-contact the ordering physician if variant interpretation changes? Help
No. The laboratory encourages health care providers to contact the laboratory at any time to learn how the status of a particular variant may have changed over time.
Research:
Is research allowed on the sample after clinical testing is complete? Help
Research testing is only performed under IRB approved protocol with an opt-out policy in place.
Recommended fields not provided:
Technical Information
Test Procedure: Help
Bi-directional DNA sequencing is utilized to test for the presence of a mutation in all 4 coding exons and intron/exon boundaries of the BTD gene.
Test Confirmation: Help
Positive results are confirmed by repeat sequence analysis.
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Sequence analysis has an analytical sensitivity of approximately 99% for nucleotide base alterations, small deletions, and insertions. Low-level mosaicism will not be detected by routine sequencing methodologies.
Assay limitations: Help
A small percentage of individuals who are carriers or have a diagnosis of biotinidase deficiency caused by a BTD gene mutation may have a mutation that is not identified by the methods described. In some cases, DNA alterations of undetermined significance may be identified. Rare polymorphisms exist that could lead … View more
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Formal PT program

PT Provider: Help
American College of Medical Genetics / College of American Pathologists, ACMG/CAP
VUS:
Software used to interpret novel variations Help
Variants may be analyzed using any combination of the following: Alamut, REVEL, Polyphen-2, SIFT, AGVGD, MutationTaster, SpliceSiteFinder-like, MaxEntScan, NNSPLICE, GeneSplicer, SpliceAI, gene-specific online databases, ISCA, UCSC Genome Browser

Laboratory's policy on reporting novel variations Help
All novel variants and copy number variants are evaluated for potential pathogenicity and included in the written report, accordingly.
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Category: FDA exercises enforcement discretion
Additional Information

IMPORTANT NOTE: NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.