Marfan Syndrome, Type 2 - TGFBR1 gene

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.

Required Forms & Information

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

Pre-Authorization is required for this testing.

Blank St. Francis Requisition 

Informed Consent

Reference Range:

Refer to Interpretive Results

Methodology:

• Polymerase chain reaction (PCR) followed by bidirectional sequencing of the coding regions of the gene and the intron / exon borders

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.

Documentation

• To confirm a clinical diagnosis and clarify therapeutic options.
• To evaluate the inheritance risk of aortic dissection and death in a family with known history.
• Symptomatic patients that did not have mutations in the FBN1 gene.
• Prenatal diagnosis for Individuals at risk due to family history

CDM

00913334

CPT Coding

81405