Extended Marfan-Related Disorders Panel

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

MARFAN PANEL(O)

Includes

Genes included: FBN1, FBN2, TGFBR1, TGFBR2, TGFB2, TGFB3, SKI and SMAD3

Preferred Specimen

2 whole blood lavender top tubes

Minimum Volume

5-10cc

Transport Temperature

Room temperature

Specimen Stability

Refrigerated: 5-7 days

Methodology
Next Generation Sequencing

Reference Range

Provided with patient report in CPRS.

Clinical Significance

The CDL offers an extended testing panel sequencing 8 genes involved in familial aneurysmal disorders, particularly Marfan syndrome and Loeys-Dietz syndrome: FBN1, FBN2, TGFBR1, TGFBR2, TGFB2, TGFB3, SKI and SMAD3. This panel is recommended for those individuals with clinical characteristics of Marfan or Loeys-Dietz syndrome including arterial aneurysms, dissection, rupture) and a family history of similar complications.

Performing Laboratory
Collagen Diagnostic Laboratory
Department of Pathology, Room D-518 Health Sciences Building
1959 NE Pacific Street, University of Washington
Seattle, WA 98195-7470

Additional Information
Link to test information on CDL website

Last Updated: February 5, 2016

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.