Cystic Kidney Disease Gene Panel, Varies
Use
The Cystic Kidney Disease Gene Panel is useful for providing a genetic evaluation for patients with a personal or family history of cystic kidney disease. It helps to establish a diagnosis of hereditary cystic kidney disease. Identification of a disease-causing variant may assist with diagnosis, prognosis, clinical management, familial screening, and genetic counseling for cystic kidney disease.
Special Instructions
Targeted testing for familial variants available for genes on this panel. Consultation with the laboratory is required for all prenatal testing. All prenatal specimens must be accompanied by a maternal blood specimen. Informed consent is required for New York clients.
Limitations
Next-generation sequencing may not detect all types of genomic variants. False-negative or false-positive results may occasionally occur. Depth of coverage can vary for some target regions and assay performance below minimum criteria or for failed regions will be noted. This test might not detect low levels of mosaicism or differentiate between somatic and germline variants. There could be regions of genes that are not effectively evaluated due to homology, high GC content, or repetitive sequences.
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 the original tube. Do not aliquot.
Patient Preparation
A previous bone marrow transplant from an allogenic donor will interfere with testing.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | Ambient (preferred) |
| Refrigerated | Refrigerated (preferred) |