Cone-Rod Dystrophy NGS panel

Genes
(full
coding region):		 ABCA4, ADAM9, AIPL1, BEST1, CABP4, CACNA1F, CACNA2D4, CDHR1, CERKL, CNGB3, CNNM4, C8ORF37, CRX, GNAT2, GUCA1A, GUCY2D, KCNV2, PCYT1A, PDE6C, PDE6H, PITPNM3, POC1B, PROM1, PRPH2, RAB28, RAX2, RDH5, RGS9, RGS9BP, RIMS1, RPGR (ORF15 excluded), RPGRIP1, SEMA4A, TTLL5, UNC119

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. Determination of sporadic cases
3. Carrier testing for at-risk family members
4. Genetic counseling

Cone-rod dystrophy (CRD) is an inherited progressive disease characterized by the loss of the cone and rod photoreceptor cells, responsible for both central and color vision. The prevalence of CRD is estimated at 1 in 40,000.

The symptoms of CRD include decreased visual acuity followed by loss of peripheral vision, loss of color vision, sensitivity to bright lights and decreased sensitivity in the central visual field.

The pattern of inheritance might be autosomal dominant, autosomal recessive and X-linked inheritance.