List of diseases covered by Corneal Dystrophy NGS panel

Published 02/04/2018

List of diseases covered by
Corneal Dystrophy NGS panel

Gene	Condition
CHST6	Macular corneal dystrophy
COL5A1	Ehlers-Danlos syndrome, classic type, 1
COL17A1	Epithelial recurrent erosion dystrophy
COL8A2	Corneal dystrophy, Fuchs endothelial, 1; Corneal dystrophy, posterior polymorphous 2
CYP4V2	Bietti crystalline corneoretinal dystrophy
DCN	Corneal dystrophy, congenital stromal
GSN	Amyloidosis, Finnish type
KRT3	Meesmann corneal dystrophy
KRT12	Meesmann corneal dystrophy
LOXHD1	Deafness, autosomal recessive 77
PIKFYVE	Corneal fleck dystrophy
PRDM5	Brittle cornea syndrome 2
SLC4A11	Corneal dystrophy, Fuchs endothelial, 4; Corneal endothelial dystrophy and perceptive deafness; Corneal endothelial dystrophy, autosomal recessive
SOD1	Amyotrophic lateral sclerosis 1
ZEB1	Corneal dystrophy, Fuchs endothelial, 6; Corneal dystrophy, posterior polymorphous, 3
ZNF469	Brittle cornea syndrome 1
TACSTD2	Corneal dystrophy, gelatinous drop-like
TGFBI	Corneal dystrophy, Avellino type; Corneal dystrophy, epithelial basement membrane; Corneal dystrophy, Groenouw type I; Corneal dystrophy, lattice type I; Corneal dystrophy, lattice type IIIA; Corneal dystrophy, Reis-Bucklers type; Corneal dystrophy, Thiel-Behnke type
UBIAD1	Corneal dystrophy, Schnyder type
VSX1	Keratoconus 1

Corneal Dystrophy

Published 22/04/2010

Corneal Dystrophy NGS panel

Genes
(full coding
region):

CHST6, COL5A1, COL17A1, COL8A2, CYP4V2, DCN, GSN, KRT3, KRT12, LOXHD1, PIKFYVE, PRDM5, SLC4A11, SOD1, ZEB1, ZNF469, TACSTD2, TGFBI, UBIAD1, VSX1

List of diseases covered by the panel

Lab method:

NGS panel with CNV analysis

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

Indications for genetic testing:
1. Confirmation of clinical diagnosis
2. Carrier testing for at-risk family members
3. Genetic counseling

Corneal dystrophy is a condition in which one or more parts of the cornea lose their normal clarity due to a buildup of cloudy material. Most cases of corneal dystrophy are of three types, classified by their inheritance pattern: dominant granular dystrophies, recessive macular dystrophy and dominant lattice-like dystrophies. Corneal dystrophies are associated with corneal epithelium, Bowman’s layer, corneal stroma and corneal endothelium. Corneal dystrophies may be present at birth, but more frequently occur during adolescence.