Brachydactyly , Panel Massive Sequencing (NGS) 18 Genes
Clinical Genetic Test
Help
offered by
GTR Test Accession: Help GTR000559978.2
INHERITED DISEASEMUSCULOSKELETALDYSMORPHOLOGY ... View more
Last updated in GTR: 2018-09-13
Last annual review date for the lab: 2021-01-04 Past due LinkOut
At a Glance
Diagnosis
Temtamy preaxial brachydactyly syndrome; Brachydactyly type A1; Brachydactyly type A1C; ...
BMP2 (20p12.3), BMPR1B (4q22.3), CHSY1 (15q26.3), ESCO2 (8p21.1), GDF5 (20q11.22), ...
Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Not provided
Not provided
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Ordering Information
Offered by: Help
Reference Laboratory Genetics
View lab's website
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.
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Yes
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Conditions Help
Total conditions: 22
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 18
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
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis
Recommended fields not provided:
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Our NGS sequencing tests reach the maximal possible technical accuracy. The error rate is less than 0.1 % (> 99.8% accuracy)
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

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