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Brachydactyly B2
Clinical Genetic Test
Help
offered by
Praxis fuer Humangenetik Wien
GTR Test Accession: Help GTR000502408.1
INHERITED DISEASEDYSMORPHOLOGYMUSCULOSKELETAL ... View more
Last updated in GTR: 2013-05-27
View version history
Last annual review date for the lab: 2022-11-24 Past due LinkOut
At a Glance
Test purpose: Help
Diagnosis
Conditions (1): Help
Brachydactyly type B2
Genes (1): Help
NOG (17q22)
Methods (1): Help
Molecular Genetics - Mutation scanning of the entire coding region: Uni-directional Sanger sequencing
Target population: Help
Not provided
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Praxis fuer Humangenetik Wien
View lab's website
Informed consent required: Help
Decline to answer
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Test Order Code, How to Order, Specimen source, Lab contact for this test, Contact policy, Test strategy, Test development
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 *
Mutation scanning of the entire coding region
Uni-directional Sanger sequencing
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis
Recommended fields not provided:
Clinical validity, Clinical utility, Target population, What is the protocol for interpreting a variation as a VUS?, Are family members with defined clinical status recruited to assess significance of VUS without charge?, Will the lab re-contact the ordering physician if variant interpretation changes?, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Studies using the same sequencing system (Roche GS Junior 454)for human mutation detection have shown that at a coverage depth of 20, the sequencing error is between 0.13 and 0.40 changes per kb with an average of 0.26 (given a minimum depth of 20 reads per base and 35/65% as … View more
View citations (1)
  • Branco E, Pereira WL, De Lima AR, Franciolli AL, Rici RE, Miglino MA, Muniz JA, Imbeloni A. Ultrastructural aspects of Callithrix penicillata lingual papillae. Microsc Res Tech. 2012;75(3):282-4. doi:10.1002/jemt.21055. Epub 2011 Sep 02. PMID: 21898663.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No
Recommended fields not provided:
Test Confirmation, Assay limitations, Description of internal test validation method, PT Provider, Description of PT method, Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

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