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Senior-Loken Syndrome Panel

New York
Approved


Genes

CEP290, INVS, IQCB1, NPHP1, NPHP3, TRAF3IP1

Conditions

  • Senior-Loken Syndrome
  • Nephronophthisis

Clinical Utility

  • Molecular confirmation of a clinical diagnosis
  • Development of appropriate evaluation and management plan
  • 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

TG26

CPT Codes*

81405x1; 81406x1; 81408x1

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.