MOLECULAR STUDY MARFAN SYNDROME TYPE 1 AND 2 (FBN1, TGFBR1, TGFBR2) SEQUENCING, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 3892

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Next Generation Sequencing (NGS)
Set Up Days:	Daily
TAT (Days):	30 days
Information:
Marfan syndrome is a systemic disease of connective tissue characterized by a variable combination of cardiovascular, musculo-skeletal, ophthalmic and pulmonary manifestations. Symptoms can appear at any age and vary greatly between individuals even within the same family. In the vast majority of cases, Marfan syndrome is caused by mutations of the FBN1 gene (15q21), which codes for fibrilline-1, a protein essential for connective tissues. Transmission is autosomal dominant. Some sporadic cases have been reported. Prognosis depends on the degree of aortic involvement. Loeys-Dietz syndrome (Marfan syndrome type 2) is a recently described syndrome characterized by the association of aortic aneurysms, hypertelorism (widely spaced eyes), cleft palate and/or bifid uvula and generalized arterial tortuosity. Other findings include craniosynostosis, exotropy, micrognathia and retrognathia, structural brain abnormalities, intellectual deficit, congenital heart disease, translucent skin, joint hyperlaxity and aneurysm with dissection throughout the arterial tree. The mode of inheritance is autosomal dominant with variable clinical expression. Causative mutations have recently been identified in the TGFBR1 and TGFBR2 genes, located on chromosome 9q22 and chromosome 3p22, respectively.
Links:
LOEYS-DIETZ SYNDROME, TYPE 1A; LDS1A - OMIM Result
LOEYS-DIETZ SYNDROME, TYPE 1B; LDS1B - OMIM Result
LOEYS-DIETZ SYNDROME, TYPE 2A; LDS2A - OMIM Result
LOEYS-DIETZ SYNDROME, TYPE 2B; LDS2B - OMIM Result
MARFAN SYNDROME; MFS - OMIM Result
Orphanet Aortic aneurysm syndrome Loeys Dietz type Marfan syndrome type 2
Orphanet Aortic aneurysm syndrome Loeys Dietz type
Orphanet Marfan syndrome Marfan syndrome type 1
FIBRILLIN 1; FBN1 - OMIM Result
TRANSFORMING GROWTH FACTOR-BETA RECEPTOR, TYPE I; TGFBR1 - OMIM Result
TRANSFORMING GROWTH FACTOR-BETA RECEPTOR, TYPE II; TGFBR2 - OMIM Result

   Find the record of the test by clicking here