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Cone-Rod Dystrophy Panel

New York
Approved


Genes

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

Conditions

  • Newfoundland Rod-Cone Dystrophy

Clinical Utility

  • 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

Lab Method

  • Next-Gen Sequencing
  • Exon Array Dx

Test Code

J956

CPT Codes*

81404x2; 81408x1; 81479x1

ABN Required

No

Turnaround Time**

4 weeks

Preferred Specimen

2-5 mL Blood - Lavender Top Tube

Alternative Specimen

Buccal Swabs

*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.