List of diseases covered by Corneal Dystrophy NGS panel

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

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


Price / TAT: 1051 EUR / 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.

Asper Ophthalmics

Asper Ophthalmics

Pricing

Achromatopsia
Age-Related Macular Degeneration
Aniridia
Anophthalmia/Microphthalmia/Coloboma/Anterior Segment Dysgenesis
Autosomal Dominant Retinitis Pigmentosa
Autosomal Recessive Retinitis Pigmentosa
Bardet Biedl Syndrome, McKusick-Kaufman Syndrome, Borjeson-Forssman-Lehmann Syndrome, Alström Syndrome, Albright Hereditary Osteodystrophy
Cataract
Choroideremia
Cone-Rod Dystrophy
Congenital Stationary Night Blindness
Corneal Dystrophy
Glaucoma
Leber Congenital Amaurosis
Leber Hereditary Optic Neuropathy

Norrie Disease
Oculocutaneous Albinism, Ocular Albinism, Hermansky-Pudlak Syndrome, Chediak-Higashi Syndrome
Optic Atrophy
Papillorenal Syndrome
Retinoblastoma
Senior-Loken Syndrome
Stargardt Disease
Usher Syndrome
Vitelliform Macular Dystrophy
Vitreoretinopathy
X-Linked Retinitis Pigmentosa (RPGR ORF15 included)
X-Linked Retinoschisis
Eye Diseases NGS panel of 283 genes
Whole Exome Sequencing

EMQN Certificate of Participation

Asper Ophthalmics is a comprehensive collection of genetic tests targeted at the diagnostics of a wide variety of hereditary ocular disorders, including retinal disorders, corneal dystrophies, and age related ophthalmic conditions.

Our genetic tests assist clinicians in confirming diagnoses and informing patients about their risks for inherited eye diseases.