Invitae Renal Tubular Disorders Panel
Use
The Invitae Renal Tubular Disorders Panel analyzes genes associated with impaired function and/or abnormal development of renal tubules. Genetic testing may confirm a diagnosis, guide treatment and management decisions, and inform recurrence-risk assessment and genetic counseling. The test covers clinically important regions of each gene, including coding exons and select non-coding variants, to provide a comprehensive analysis for inherited renal tubular disorders.
Special Instructions
Some genes in the panel might relate to additional disorders not listed. Variants outside the tested regions are not analyzed. The test can be customized by selecting or deselecting genes. The clinical description of this panel can be viewed through the provided link.
Limitations
The assay achieves >99% sensitivity and specificity for certain variant types. Single-exon copy number events may not be analyzed if quality issues arise. Structural rearrangements or variants in complex sequence architectures may be undetected. Sequence changes in non-coding regions, promoters, and some non-coding exons are not guaranteed coverage unless specified. In rare cases, DNA might not represent the patient's genome due to hematolymphoid neoplasm or recent transfusions.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
10-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3mL
Minimum Volume
Not provided
Container
purple-top EDTA tube (K2EDTA or K3EDTA)