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
A previous bone marrow transplant from an allogenic donor will interfere with testing. Contact Mayo Clinic Laboratories for instructions for patients who have undergone such a transplant. Forms require informed consent documentation, especially for New York clients. Customization of the panel and single gene analysis is available. The specimen should preferably arrive within 96 hours of collection.
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
- 62364-5
- 31208-2
- 50397-9
- 82939-0
- 69047-9
- 99622-3
- 48767-8
- 85069-3
- 48018-6
- 18771-6
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) |