Talk to Your Kidney Specialist
The first step in getting genetic testing is to discuss the need with your nephrologist. Some reasons to ask about genetic testing are:
- Your doctor suspects you may have a genetic form of your disease
- Your family has a history of protein-spilling kidney disease or End Stage Kidney Disease including dialysis or kidney transplant
- You do not respond to Prednisone or other treatments for your disease
- You are of African decent
Receiving approval for genetic testing from private insurance companies can sometimes be difficult and time consuming. If your insurance first denies your doctor’s request for genetic testing, it is important for your doctors office to submit an appeal.
Alternate Avenues for Genetic Testing
If you are unable to get approval for genetic testing from your insurance, there are several other ways to obtain genetic information without having to spend money out of pocket!
To facilitate diagnosis of several rare forms of chronic kidney disease (CKD), Reata Pharmaceuticals and Invitae have partnered to offer sponsored, no-charge genetic testing and counseling for patients with CKD.
KIDNEYCODE offers genetic testing with the Invitae Progressive Renal Disease Panel, which includes 18 genes that are known to be associated with chronic kidney disease, including Alport syndrome, FSGS, and one form of ADPKD (PKD2).
Renasight is a test to determine if there is a genetic cause for an individual’s kidney disease or if there is increased risk due to family history. The test uses a blood or saliva sample to test 382 genes associated with kidney disease. Results are available in approximately 3 weeks.
The Rare Genomes Project aims to increase rare and undiagnosed families’ access to genomic research, empowering patients to directly accelerate the pace of rare disease diagnosis. This project was designed to be a direct partnership between researchers and patients, so they can better understand their conditions. If there are genetic findings, you will be offered genetic counseling.
Most academic studies are for research purposes only. It is important to understand that patients may not receive the results in a timely manner or at all. Most of these studies also do not include genetic counseling once results are found.
The APOL1 study is a genetic study for people of African Ancestry. In the US, 13% of Blacks carry APOL1 gene changes that cause kidney disease. 70% of Blacks with diagnosis of focal segmental glomerulosclerosis (FSGS) carry these APOL1 gene changes. Right now, there is no treatment for APOL1-associated kidney disease, and doctors don’t have a way to screen for people with APOL1 gene changes who are likely to develop kidney disease. This study aims to learn more about how APOL1 causes kidney disease and the best way to treat and screen people. To learn more click on the link above.
The major focus of Dr Rasheed Gbadegesin’s laboratory is to understand the molecular pathogenesis of childhood onset nephrotic syndrome (NS) and ultimately identify novel and non-toxic therapeutic targets for the treatment of this common childhood kidney disease. In line with this broad goal, he has been examining the molecular causes of NS and other inheritable kidney conditions.
Genetic Research into FSGS, Nephrotic Syndrome, Unexplained Proteinuria, and Unexplained Kidney Failure
The Laboratory of Inherited Kidney Disease at Beth Israel Deaconess Medical Center and Harvard Medical School in Boston, Massachusetts, directed by Dr. Martin Pollak, seeks to identify genes that underlie the development of FSGS and similar diseases.