List of diseases covered by Cutis Laxa NGS panel

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

Cutis Laxa NGS panel

Cutis Laxa NGS panel

Genes
(full coding
region):
ALDH18A1, ATP6V0A2, ATP7A, EFEMP2, ELN, FBLN5, GORAB, LTBP4, PYCR1

List of diseases covered by the panel


Lab method: NGS panel

NGS panel with CNV


TAT: 6-9 weeks

Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.


Ordering information: Go to online ordering or download sample submission form