Invitae Nephronophthisis Panel
Use
The Invitae Nephronophthisis Panel analyzes 27 genes associated with nephronophthisis, a condition marked by renal cysts and kidney issues leading to end-stage renal disease. Genetic testing may confirm diagnosis and guide treatment management as well as inform recurrence-risk assessment and genetic counseling, although there is currently no treatment available to halt the progression of renal failure.
Special Instructions
Test can be customized to exclude specific genes. Alternate specimens accepted include saliva, buccal swab, and gDNA. Specimen collection kits can be requested.
Limitations
The test analyzes coding exons and adjacent intronic sequences, and includes some non-coding variants. Some structural rearrangements may not be detected, and resolution may be limited for certain details about variants, such as mosaicism or mapping ambiguity. The assay achieves >99% analytical sensitivity for SNVs, insertions, deletions, and exon-level changes, but sensitivity may be reduced for certain large insertions or single-exon CNVs. Variants outside covered regions are not analyzed, including promoter, non-coding exons, or other non-coding regions.
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)