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Distal Renal Tubular Acidosis Panel

New York
Approved


Genes

ATP6V0A4, ATP6V1B1, CA2, HNF4A, SLC34A1, SLC4A1

Conditions

  • Distal Renal Tubular Acidosis
  • CA II Deficiency

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 and recurrence risk assessment

Lab Method

  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Test Code

TG97

CPT Codes*

81406x1; 81479x1

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.