Say hello to digital Patient Letters! Learn more >

Branchiootorenal Spectrum Disorder Panel


Genes

EYA1, SIX1, SIX5

Conditions

  • Anterior segment anomalies with or without cataract
  • Melnick-Fraser Syndrome
  • Otofaciocervical Syndrome
  • Branchiootic Syndrome
  • Branchiootorenal Syndrome

Clinical Utility

  • Molecular confirmation of a clinical diagnosis
  • To assist with decisions about treatment and management
  • Testing of at-risk relatives for specific known variant(s) previously identified in an affected family member
  • Prenatal diagnosis for known familial pathogenic variant(s) in at-risk pregnancies
  • Genetic counseling, especially recurrence risk and prenatal diagnosis

Lab Method

  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Test Code

TL57

CPT Codes*

81405x1; 81406x1

ABN Required

No

Turnaround Time**

4 weeks

Preferred Specimen

2-5 mL Blood - Lavender Top Tube

Alternative Specimen

Buccal Swabs | Extracted DNA

*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.