Achromatopsia, Cone, and Cone-rod Dystrophy: Sequencing Panel
Test Code: 6677
Turnaround time: 6 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, UN C119
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.
Next Generation Sequencing: In-solution hybridization of all coding exons is performed on the patient’s genomic DNA. Although some deep intronic regions may also be analyzed, this assay is not mean to interrogate most promoter regions, deep intronic regions, or other regulatory elements, and does not detect single or multi-exon deletions or duplications. Direct sequencing of the captured regions is performed using next generation sequencing.
Clinical Sensitivity: Unknown. Pathogenic variants in the promoter region, some pathogenic variants in the introns and other regulatory element pathogenic variants cannot be detected by this analysis. Large deletions will not be detected by this analysis. Results of molecular analysis should be interpreted in the context of the patient’s clinical and/or biochemical phenotype.
Analytical Sensitivity: ~99%.
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: Deletion/Duplication Panel.