Renal cystic diseases include all the genetic pathologies whose phenotype includes renal parenchymal cysts as their main manifestation. These include autosomal dominant and autosomal recessive polycystic kidney disease, nephronophthisis, autosomal dominant tubulointerstitial kidney disease, glomerulocystic kidney disease, and other syndromic diseases with renal cystic involvement.
~1/1,000 (ADPKD)
~1/10,000 (ARPKD)
~1-9/10,000 (nephronophthisis)
Identifying genetic variants causing cystic disease allows for a precise molecular diagnosis that provides the necessary information to perform genetic counseling, direct patient management, and offers predictive value to carrier patients.
This panel is indicated when a cystic disease is suspected that includes the following clinical characteristics:
1) Download & fill out
Please cover as many fields as possible in both documents
2) Sample collection
See sample types in the guidelines
3) Pack the sample
Please pack the sample in a way to prevent leakage
4) Send the sample & the request
Please schedule the delivery for Monday–Friday: 8am – 5pm
5) Result: the report
Via: e-mail and/or through the customer portal
"*" indicates required fields
Turnaround time (TAT): 25 days
Ref. S-202110418
Priority Genes : Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
* Candidate Genes: Not enough evidence in humans, but potentially associated with the disease.
