Cone-Rod Dystrophy NGS panel
|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|
|Lab method:||NGS panel with CNV analysis|
|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
|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.