Cone-Rod Dystrophy Panel
ABCA4, ADAM9, AIPL1, BEST1, C8orf37, CABP4, CACNA1F, CDH3, CDHR1, CEP290, CERKL, CNGA3, CNGB3, CRX, DRAM2, ELOVL4, GUCA1A, GUCY2D, PAX6, PITPNM3, POC1B, PROM1, RAB28, RAX2 (QRX), RDH5, RDS (PRPH2), RIMS1, RPGR, RPGRIP1, SEMA4A, TTLL5
- Newfoundland Rod-Cone Dystrophy
- Deceased visual acuity, photophobia, and loss of color vision in childhood
- Issues with reading, focusing on an image, or blind spots in central vision (scotomas)
- Subsequent night blindness, central vision loss, and peripheral vision loss in later stages
- Signs of nystagmus with progression of disease
- Next-Gen Sequencing
- Exon Array Dx
81404x2; 81408x1; 81479x1
*The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.
**Reporting times are typical and begin once the sample(s) are received at the GeneDx laboratory, but could be extended in situations outside GeneDx’s reasonable control.
Targeted Variant Testing