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Anophthalmia/Microphthalmia Panel

New York
Approved


Genes

ALDH1A3, BCOR, BMP4, BMP7, COX7B, CRYBA4, FOXE3, GDF6, HCCS, MITF, NAA10, NDUFB11, OTX2, PAX6, PRSS56, RAX, SALL1, SHH, SIX6, SOX2, STRA6, TENM3, VSX2 (CHX10)

Conditions

  • Microphthalmia
  • Anophthalmia

Clinical Utility

  • Absent or underdeveloped eyes and eye tissue resulting in reduced axial length and narrow palpebreal fissures
  • Coloboma, cataract, glaucoma or microcornia in addition to overall eye underdevelopment
  • Associated findings such as cleft lip/palate, seizures, brain malformations, learning and developmental disabilities
  • Chromosome aberrations, as seen in approximately 1/4 of individuals with A/M

Lab Method

  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Test Code

J957

CPT Codes*

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.