Comprehensive Nephrology Gene Panel, Varies
Use
The Comprehensive Nephrology Gene Panel is used for genetic evaluation of patients with a personal or family history suggestive of hereditary kidney disease. It aims to establish diagnoses for various hereditary kidney conditions, including focal segmental glomerulosclerosis, nephritic/nephrotic syndrome, Alport syndrome, cystic kidney diseases, tubulointerstitial disease, congenital anomalies of the kidney and urinary tract, nephrocalcinosis, nephrolithiasis, renal electrolyte imbalances, C3 glomerulopathy, and complement-mediated thrombotic microangiopathy. The test provides insights into genetic etiologies and can aid in differentiating complex clinical presentations across a spectrum of monogenic kidney diseases.
Special Instructions
Not provided.
Limitations
The test utilizes next-generation sequencing, which may not detect all genomic variants. There is potential for false-negative or false-positive results. Technical limitations involve variable coverage depth, regions of homology, high GC content, and repetitive sequences. The test does not report non-renal APOE variants, common APOE alleles, or other non-kidney-related disease associations. Genes on the panel assess monogenic etiologies but do not cover complex or multifactorial inheritances. Deletion/duplication analysis might not achieve single exon resolution due to coverage reductions or genomic complexity. The test is not sensitive to low-level mosaicism and may not differentiate somatic from germline variants. Confirmation of select reportable variants will follow alternative methodologies if needed.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 51966-0 - Gene dis DNA anl Pnl
- 62364-5 - Test performance info Spec
- 31208-2 - Specimen source
- 50397-9 - Mol dx interp Bld/T Ql
- 82939-0 - Genetic variant details Bld/T
- 69047-9 - Geneticist review
- 99622-3 - Patient resource info
- 48767-8 - Annotation comment Imp
- 85069-3 - Lab test method
- 48018-6 - Gene studied ID
- 18771-6 - Provider signing name
Result Turnaround Time
28-42 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
1 mL
Container
Lavender top (EDTA) or yellow top (ACD)
Collection Instructions
Invert several times to mix blood. Send whole blood specimen in original tube. Do not aliquot.
Patient Preparation
A previous bone marrow transplant from an allogenic donor will interfere with testing. Call 800-533-1710 for instructions for testing patients who have received a bone marrow transplant.
Causes for Rejection
All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | Ambient (preferred) |