Connective Tissue Disorders 22-gene panel
GTR Test Accession: Help GTR000529183.1
Last updated in GTR: 2016-01-28
Last annual review date for the lab: 2021-11-30 Past due LinkOut
At a Glance
Diagnosis; Mutation Confirmation
Familial thoracic aortic aneurysm and aortic dissection; Aneurysm-osteoarthritis syndrome; Aortic aneurysm; ...
ACTA2 (10q23.31), COL11A1 (1p21.1), COL11A2 (6p21.32), COL1A1 (17q21.33), COL1A2 (7q21.3), ...
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
Center for Human Genetics, Inc
View lab's website
View lab's test page
Specimen Source: Help
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
Test additional service: Help
Custom Prenatal Testing
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:
Conditions Help
Total conditions: 18
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 22
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Total methods: 1
Method Category Help
Test method Help
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
ion torrent
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation
Is research allowed on the sample after clinical testing is complete? Help
If negative, additional testing of MFAP5 and TGFB3 is available.
Recommended fields not provided:
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
greater than 99%
Proficiency testing (PT):
Is proficiency testing performed for this test? Help

Method used for proficiency testing: Help
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

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