Marfan syndrome Sequencing

Marfan syndrome is a genetic disorder of connective tissue. It is sometimes inherited as a dominant trait, but can sometimes be a spontaneous mutation. It is carried by a gene called FBN1, which encodes a connective protein called fibrillin-1. People have a pair of FBN1 genes. Because it is dominant, people who have inherited one affected FBN1 gene from either parent will have Marfan syndrome. Parents have a 50/50 chance of passing on the gene to their children.

Patients may be exceptionally tall, with long limbs and long thin fingers. The most serious complication is defects of the aortic valves. It may also affect the lungs, eyes, and dural sac surrounding the spinal cord, skeleton and hard plate.

DNA sequencing of the whole coding FBN1 gene mutation can detect approximately 70-93 % patients fulfilling Marfan syndrome diagnostic criteria. (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=marfan)

Methodology: Sequencing of entire coding region

Purpose: Confirmation of Clinical Diagnosis

ICD-9 Code 759.82

Test Requisition: Sequencing Requisition

CPT Code: 81408 Cost: $1408.00

Turn-around-time: 5-6 weeks