Connective Tissue Panel
GTR Test Accession: Help GTR000553480.3
Last updated in GTR: 2023-02-08
Last annual review date for the lab: 2023-09-29 LinkOut
At a Glance
Diagnosis; Pre-symptomatic; Risk Assessment; ...
X-linked intellectual disability with marfanoid habitus; Aneurysm-osteoarthritis syndrome; Aortic aneurysm, familial thoracic 10; ...
ACTA2 (10q23.31), B3GAT3 (11q12.3), BGN (Xq28), C1R (12p13.31), C1S (12p13.31), ...
Molecular Genetics - Deletion/duplication analysis: Next-Generation (NGS)/Massively parallel sequencing (MPS); ...
Not provided
Not provided
Not provided
Ordering Information
Offered by: Help
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics
View lab's website
View lab's test page
Specimen Source: Help
Test Order Code: Help
CPT codes: Help
**AMA CPT codes notice
Lab contact: Help
DGD GeneticCounselor, Genetic Counselor
How to Order: Help
Each specimen must be accompanied by a physician's test request. Informed consent is desirable. Proper billing information should also be provided on the test requisition form.
Order URL
Test development: Help
Test developed by laboratory (no manufacturer test name)
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: 44
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 40
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Total methods: 2
Method Category Help
Test method Help
Instrument *
Deletion/duplication analysis
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Pre-symptomatic; Risk Assessment; Screening
Recommended fields not provided:
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Analytical sensitivity and specificity for sequencing and copy number variants is ~99%.  It may be lower for technically difficult genomic regions.  Please see our test menu entry for test-specific information.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
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.