Forms and Documents
- 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, especially recurrence risk and prenatal diagnosis
Test is designed to identify a contiguous gene deletion involving PKD1 and TSC2, not to identify sequencing and exon-level copy number variants of TSC2.
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.
*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.
**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.