Nephrocalcinosis, Nephrolithiasis, and Renal Electrolyte Imbalance Gene Panel, Varies
Use
This test provides a genetic evaluation for patients with a personal or family history suggestive of a hereditary form of nephrocalcinosis, nephrolithiasis, or renal electrolyte imbalance. It helps in establishing a diagnosis for a variety of hereditary conditions associated with renal salt wasting or abnormal salt retention, impaired acid-base, water, and calcium homeostasis, or kidney crystallization. Identification of a disease-causing variant may assist with diagnosis, prognosis, clinical management, familial screening, and genetic counseling for these hereditary conditions.
Special Instructions
A previous bone marrow transplant from an allogeneic donor will interfere with testing. Call for instructions for testing patients who have received a bone marrow transplant. Specimen preferred to arrive within 96 hours of collection. Informed consent is required for New York clients. Customization of this panel and single gene analysis for any gene present on this panel are available.
Limitations
Next-generation sequencing may not detect all types of genomic variants. False-negative or false-positive results may occur. There may be regions of genes that cannot be effectively evaluated due to technical limitations, including regions of homology, high guanine-cytosine content, and repetitive sequences. Deletions-insertions of 40 or more base pairs may be less reliably detected than smaller delins. Del/Dup analysis targets single and multi-exon deletions/duplications, but some instances of single exon resolution cannot be achieved due to isolated reduction in sequence coverage or genomic complexity. This test does not detect low levels of mosaicism or differentiate between somatic and germline variants.
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 specimen in original tube. Do not aliquot.
Patient Preparation
A previous bone marrow transplant from an allogenic donor will interfere with testing.
Storage Instructions
Ambient (preferred)/Refrigerated
Causes for Rejection
All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.