Focused Autosomal Dominant Polycystic Kidney Disease Gene Panel, Varies
Use
This test provides a genetic evaluation for patients with a personal or family history suggestive of autosomal dominant polycystic kidney disease (ADPKD). It helps establish a diagnosis of ADPKD, which is characterized primarily by bilateral kidney cysts, liver cysts, and an increased risk for intracranial aneurysm. The test identifies pathogenic variants which may assist with diagnosis, prognosis, clinical management, familial screening, and genetic counseling for ADPKD.
Special Instructions
The test applies next-generation sequencing to detect single nucleotide, small deletion-insertion, and copy number variants in 8 genes associated with ADPKD: ALG8, ALG9, DNAJB11, GANAB, HNF1B, PKD1, PKD2, UMOD. Shipping instructions require specimens to preferably arrive within 96 hours of collection. A previous bone marrow transplant from an allogenic donor will interfere with testing. Ensure informed consent, especially for New York clients.
Limitations
Next-generation sequencing may not detect all types of genomic variants, and false-negative or false-positive results may occur. Certain sequences, such as those with homology, high guanine-cytosine content, and repetitive sequences, may not be evaluated effectively. Deletions up to 75 bp and insertions up to 47 bp are detected with high sensitivity, but larger delins may be less reliably detected. This test does not detect low levels of mosaicism or differentiate somatic from 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 blood 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, can also be refrigerated.