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.

Cutis Laxa Panel

Posted on by Dru Leistritz

The CDL offers a 13 gene panel for genes associated with cutis laxa. Pathogenic variants in ALDH18A1, ATP6V0A2, ATP6V1A, ATP6V1E1, ATP7A, EFEMP2, ELN, FBLN5, GORAB, LTBP4, PYCR1, RIN2, and SLC2A10 have been identified in individuals with cutis laxa. This panel is recommended for individuals with possible autosomal dominant, autosomal recessive, and X-linked forms of cutis laxa.

Cutis laxa is a rare connective tissue disorder characterized by loose, hanging skin that is inelastic. Affected individuals have skin that hangs in loose folds, often causing the face and body to have a droopy appearance. In severe cases, the internal organs such as the lungs, heart, intestines, or arteries may also be affected.