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 syndrome is a connective tissue disorder with striking pleiotropism and clinical variability. Cardiac features are dilatation of the aortic root, aneurysm of the aorta and aortic dissection. The cardiac symptoms often lead to premature death. Skeletal features are increased height, disproportionately long limbs, chest deformity, joint laxity, scoliosis and a narrow, highly arched palate with crowding of the teeth. Ocular features include myopia and ectopia lentis.
Classical Loeys-Dietz syndrome (LDS) is also an autosomal dominant aortic aneurysm syndrome. LDS is characterized by arterial tortuosity and aneurysms, hypertelorism, and bifid uvula or cleft palate. The natural history of both conditions is characterized by aggressive arterial aneurysms and a high rate of pregnancy-related complications. The overlap of symptoms for these two conditions requires that a full analysis of Marfan syndrome must be extended to include reflexive analysis of theTGFBR1 and TGFBR2 genes.
Documentation
INDICATIONS FOR USE:
- 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