FBN1 gDNA Testing

Posted on by Melanie Pepin

Mutations in FBN1 can result in several phenotypes, the most frequent of which is Marfan syndrome that is characterized by relative tall stature, arachnodactyly, kyphoscoliosis, chest deformity, lens dislocation and a high risk for aortic aneurysm and dissection. In addition to Marfan syndrome mutations in FBN1 can cause dominantly inherited forms of geleophysic dysplasia, acromicric dysplasia, Weill Marchesani syndrome, and stiff skin syndrome.

Please consult our Familial Aneurysm Test Guide to learn more about when to test for mutations in FBN1.

Marfan Syndrome and Loeys-Dietz Panel

Posted on by Melanie Pepin

The CDL offers a core testing panel sequencing 8 genes involved in familial aneurysmal disorders, particularly Marfan syndrome and Loeys-Dietz syndrome: FBN1, TGFBR1, TGFBR2, TGFB2, TGFB3, SMAD2, SMAD3, and SMAD4.  This panel is recommended for those individuals with clinical characteristics of Marfan or Loeys-Dietz syndrome including arterial aneurysms, dissection, rupture) and a family history of similar complications. 

Arterial Aneurysm Panel

Posted on by Melanie Pepin

The CDL offers a testing panel sequencing 25 genes associated with familial arterial aneurysms, including genes for Marfan Syndrome, Loeys-Dietz syndrome, vascular Ehlers-Danlos Syndrome, and TAAD: ACTA2, COL3A1, FBN1, FBN2, MAT2A, MYH11, MYLK, PRKG1, SKI, SLC2A10, SMAD3, TGFBR1, TGFBR2, TGFB2, TGFB3, FOXE3, BGN, LOX, MFAP5, NOTCH1, PLOD3, SMAD2, SMAD4, SMAD6, COL1A1, and CBS.  This panel is recommended for those individuals with vascular complications (arterial aneurysms, dissection, rupture) and a family history of similar complications with features overlapping with Marfan Syndrome and vascular Ehlers-Danlos Syndrome.  Please consult our Test Guide on Familial Aneurysm for more information.

Ectopia Lentis Panel

Posted on by Dru Leistritz

The CDL offers a 5 gene panel for genes associated with ectopia lentis. Pathogenic variants in ADAMTS10, ADAMTS17, ADAMTSL4, FBN1, and CBS have been identified in individuals with ectopia lentis. This panel is recommended for individuals with possible autosomal dominant or autosomal recessive ectopia lentis.

Ectopia lentis is the displacement of the eye’s crystalline lens, a clear structure at the front of the eye that focuses light. Vision problems are common in these individuals and may include nearsightedness (myopia), irregular curvature of the lens (astigmatism), clouding (cataracts), or increased pressure within the eyes (glaucoma). Ectopia lentis occurs in approximately 1 in 15,600 individuals and usually occurs as part of a broader, systemic condition such as Marfan Syndrome or Homocystinuria.