List of diseases covered by Cutis Laxa NGS panel

Gene Condition
ALDH18A1 Cutis laxa, autosomal dominant 3;
Cutis laxa, autosomal recessive, type IIIA;
Spastic paraplegia 9A, autosomal dominant;
Spastic paraplegia 9B, autosomal recessive
ATP6V0A2 Cutis laxa, autosomal recessive, type IIA;
Wrinkly skin syndrome
ATP7A Menkes disease; Occipital horn syndrome;
Spinal muscular atrophy, distal, X-linked 3
EFEMP2 Cutis laxa, autosomal recessive, type IB
ELN Cutis laxa, autosomal dominant;
Supravalvar aortic stenosis
FBLN5 Cutis laxa, autosomal dominant 2;
Cutis laxa, autosomal recessive, type IA;
Neuropathy, hereditary, with or without age-related macular degeneration
GORAB Geroderma osteodysplasticum
LTBP4 Cutis laxa, autosomal recessive, type IC
PYCR1 Cutis laxa, autosomal recessive, type IIB;
Cutis laxa, autosomal recessive, type IIIB