Marfan Syndrome, Type 2 - TGFBR2 gene

Last Modified: 5/21/2015 1:00:16 PM

Client Notes: Contact the Laboratory at 266-1500 (Option 1) for Payment Requirements of this test

*Send copy of insurance cards and proper paperwork with specimen to Parkview Health Laboratories

Blank St. Francis Requisition 

Pre-Authorization is required for this testing.
Specimen Requirements:

Two 3.0 mL Whole Blood in a Lavender Top Tubes - EDTA 

Pediatric requirements: 2.0 mL Whole Blood in a Lavender Top Tube - EDTA 

Neonatal Volume: 1.0 mL Whole Blood
Transport & Storage: Temperature/Stability: 72 hours Ambient
Rejection Criteria: Frozen Specimen
Reference Range: Reference Range Not Established
Methodology: Analysis of the fibrillin (FBN1) gene is performed by DNA sequencing
Clinical Significance:

Marfan disease is a result of defects in the connective protein fibrillin. This disorder results in individuals that can be very tall and thin, have pectus excavatum (depression under the sternum in chest), and develop cataracts and/or dislocated retinas. Defects in the aorta (mitral valve prolapse, aortic dilation, and aortic aneurysm) can be life threatening - especially for pregnant women. In the United States, it is estimated that 1 in 10,000 are at risk for developing Marfan disease. However, the risk may be much higher because many cases remain undiagnosed due to variable expression.

Most Marfan disease is inherited in an autosomal dominant pattern as the result of a defective fibrillin gene located on chromosome 15. However, a large proportion of cases appear spontaneous and variable expression can obscure the inheritance patterns. Therefore, direct testing for the mutations is often the only way to confirm the disease in many patients. Detection of mutations by sequencing of the fibrillin gene ranges from 35% to 85% depending on family history.

Custom Panel: No


Turn Around Time: 6 to 8 weeks
Days Performed: Monday, Tuesday, Wednesday, Thursday, Friday
Other Testing Facility: Saint Francis
PHL Test Code: MSOT
EPIC Test Code:
Send Out Test Code: TGFBR2
Alternate Test Names: Marfan's TGBR2; Marfan's Tier I
CPT Coding: 83890, 83894, 83898 x 10, 83904 x 20, 83912

Go back to the top of the page.