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 |
RIN2 | Macrocephaly, alopecia, cutis laxa, and scoliosis |