Cystic Kidney and Liver Diseases Panel

New York
Approved

Genes

AHI1, ALG8, ALG9, ANKS6, BICC1, CC2D2A, CEP120, CEP290, CEP83, COL4A1, CRB2, CSPP1, GANAB, GLIS2, GLIS3, HNF1B, IFT172, INVS, IQCB1, JAG1, LRP5, MKKS, MKS1, NEK8, NOTCH2, NPHP1, NPHP3, OFD1, PAX2, PKD1, PKD2, PKHD1, PMM2, PRKCSH, RMND1, RPGRIP1L, SEC61A1, SEC63, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TSC1, TSC2, TTC21B, UMOD, VHL, WDR35

Conditions

  • Nephronophthisis
  • Autosomal Dominant Polycystic Kidney Disease
  • Autosomal Recessive Polycystic Kidney Disease
  • Medullary Cystic Kidney Disease
  • Polycystic Liver Disease
  • Joubert Syndrome
  • Tuberous Sclerosis Complex (TSC)
  • Von Hippel-Lindau syndrome
  • Polycystic Kidney Disease

Clinical Utility

  • Molecular confirmation of a clinical diagnosis
  • Development of appropriate evaluation and management plan
  • Evaluation of family members as possible donors for kidney/liver 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, especially recurrence risk and prenatal diagnosis

Lab Method

  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Important Information

Sequencing of the PKD1 gene is challenging due to high homology with six known pseudogenes (exons 1-33). Our NGS assay is specifically designed to provide superior mapping quality and uniform coverage across the coding region of PKD1, enabling robust detection of variants including indels. For mapping quality of >20, 99.7% of the targeted nucleotides have a mean coverage of 264 reads; even at a mapping quality of >40, mean coverage is 254x. PKD1 variants are confirmed by long-range, nested PCR and capillary sequencing. For Deletion/Duplication analysis, Multiplex Ligaton-Dependent Probe Amplification (MLPA) is performed.

Test Code

TG23

CPT Codes*

81406x2; 81407x1; 81408x2

ABN Required

No

Turnaround Time**

4-6 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.

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