Marfan Syndrome and MFS Related Disorders Panel

GTR Test IDHelpEach Test is a specific, orderable test from a particular laboratory, and is assigned a unique GTR accession number. The format is GTR00000001.1, with a leading prefix 'GTR' followed by 8 digits, a period, then 1 or more digits representing the version. When a laboratory updates a registered test, a new version number is assigned.: GTR000500927.3
Last updated: 2023-07-31
Test version history
- 500927.3, last updated: 2023-07-31
- 500927.2, last updated: 2019-10-16
- 500927.1, last updated: 2019-09-12

Clinical testHelpIn the U.S., clinical tests must be performed under CLIA certification. When a lab uses the same methods for a test in both clinical and research settings, the test appears as two separate GTR records. for Marfan syndrome
Offered by Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory

Performance Characteristics

Entire test performed in-house

The sensitivity of DNA sequencing is over 99% for the detection of nucleotide base changes, small deletions and insertions in the regions analyzed

Citations

Not provided

Mutations in regulatory regions or other untranslated regions are not detected by this test. Large deletions involving entire single exons or multiple exons, large insertions and genetic recombinational events may not be identified using these methods. Rare primer site variants may lead to erroneous results.

Is proficiency testing performed for this test? HelpWhether the test undergoes periodic internal or external evaluation of the accuracy of test results. Lab-provided.: No

FDA Category Designation: FDA exercises enforcement discretion

Reviews

Clinical resources

Practice guidelines

Orphanet, 2007
Orphanet, Marfan Syndrome, 2007
EuroGenetest, 2010
Clinical utility gene card for: Marfan syndrome type 1 and related phenotypes [FBN1]

Molecular resources

Consumer resources

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the 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.

Marfan Syndrome and MFS Related Disorders Panel

Performance Characteristics

Availability

Analytical Validity

Citations

Assay Limitation(s)

Proficiency Testing (PT)

FDA Regulatory Clearances of the Test

Reviews

Suggested reading

Clinical resources

Practice guidelines

Molecular resources

Consumer resources