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Nephrotic Syndrome/Focal Segmental Glomerulosclerosis

New York
Approved


Genes

ACTN4, ADCK4(COQ8B), ALG1, ANLN, APOL1, ARHGAP24, ARHGDIA, CD2AP, COL4A3, COL4A4, COL4A5, COQ2, COQ6, CRB2, CUBN, DGKE, EMP2, FAN1, FAT1, FN1, GLA, INF2, ITGA3, ITGB4, KANK1, KANK2, KANK4, LAMB2, LMX1B, MAGI2, MYH9, MYO1E, NEIL1, NPHP1, NPHS1, NPHS2, NUP107, NUP205, NUP93, OCRL, PAX2, PDSS2, PLCE1, PMM2, PTPRO, SCARB2, SGPL1, SMARCAL1, STS, TBC1D8B, TRPC6, TTC21B, WDR73, WT1, XPO5

Conditions

  • Focal Segmental Glomerulosclerosis
  • Alport Syndrome
  • Nephrotic Syndrome
  • Chronic Kidney Disease Risk

Clinical Utility

  • Molecular confirmation of a clinical diagnosis
  • Development of appropriate evaluation and management plan
  • Evaluation of family members as possible donors for kidney transplantation
  • 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
  • Capillary Sequencing

Important Information

Test is designed to identify G1 and G2 risk alleles only in the APOL1 gene

Test Code

TG99

CPT Codes*

81405x2; 81406x2; 81407x1; 81408x2

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.