Achromatopsia, Cone, and Cone-rod Dystrophy: Deletion/Duplication Panel
Test Code: 1110
Turnaround time: 2 weeks
Achromatopsia, Cone, and Cone-rod Dystrophy
ABCA4, ADAM9, AIPL1, BEST1, C8orf37, CABP4, CACNA1F, CACNA2D4, CDHR1, CEP290, CERKL, CNGA3, CNGB3, CNNM4, CRX, GNAT2, GUCA1A, GUCA1B, GUCY2D, KCNV2, PAX6, PDE6C, PDE6H, PITPNM3, PROM1, PRPH2, RAX2, RBP4, RDH5, RGS9, RGS9BP, RIMS1, RPGR, RPGRIP1, SEMA4A, UNC119
This test is indicated for:
- Confirmation of a clinical diagnosis of achromatopsia, cone, and cone-rod dystrophy.
- Carrier testing in adults with a family history of achromatopsia, cone, and cone-rod dystrophy.
Deletion/Duplication Analysis: DNA isolated from peripheral blood is hybridized to a gene-targeted CGH array to detect deletions and duplications. The targeted CGH array has overlapping probes that cover the entire genomic region.
Deletion/Duplication: Detection is limited to duplications and deletions. The CGH array will not detect point or intronic pathogenic variants. Results of molecular analysis must be interpreted in the context of the patient’s clinical and/or biochemical phenotype.
Type: Whole Blood
Specimen Requirements: In EDTA (purple top) tube: 3-5 ml
Specimen Collection and Shipping: Ship sample at room temperature with overnight delivery.
- Eye Disorders: Comprehensive Sequencing and Deletion/Duplication Panels.
- Achromatopsia, Cone, and Cone-rod Dystrophy: Sequencing Panel.