TGFBR1

Message

This test is currently only available in BHS CPRS. If you are a Bedford provider and wish to see this test offered in Bedford CPRS- please contact the Bedford Laboratory.

Test Code

TGFBR1(O)

Preferred Specimen

Whole blood Lavender EDTA

Minimum Volume

3 mL

Transport Temperature

Room Temperature

Methodology
PCR

Report Available

7-14 days

Reference Range

Provided with the patient report in CPRS.

Clinical Significance

Mutations in the TGFBR1 gene have been implicated in a range of autosomal dominant conditions with a considerable degree of phenotypic overlap. The genetic disease most commonly associated with TGFBR1 mutations is Loeys-Dietz syndrome (LDS), which is characterized by cerebral, thoracic and abdominal arterial aneurysms and/or dissections, as well as skeletal anomalies (chest abnormalities, scoliosis, joint laxity, arachnodactyly). LDS can also be caused by mutations in the TGFBR2 gene.

Performing Laboratory
Test performed at Mayo Clinic and sent via Quest.

Additional Information
Link to test information on Mayo Clinic website.

Last Updated: October 28, 2015

The CPT Codes provided in this document are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payor being billed. Any Profile/panel component may be ordered separately. Reflex tests are performed at an additional charge.