ADAMTS10, ASB10 (GLC1F), BEST1, BMP4, COL4A1, COL8A2, CREBBP, CYP1B1, FBN1, FOXC1, FOXE3, GJA1, ISPD, LMX1B, LTBP2, MAF, MYOC, NTF4, OPA1, OPA3, OPTC, OPTN, PAX6, PIK3R1, PITX2, PITX3, POMT1, PRSS56, PXDN, RPS19, RRM2B, SBF2, SH3PXD2B, SIX6, TBK1, TMEM126A, TTR, WDR36
- Glaucoma in early adulthood, childhood, or infancy
- Peripheral vision loss with further deterioration of central vision
- Excessive tearing, photophobia, increased intraocular pressure (IOP), bulged eyes Spasms or contractions of the eyelids (blepharospasm)
- Next-Gen Sequencing
- Deletion/Duplication Analysis
81404x1; 81406x2; 81407x1; 81408x1
*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