Avenues for Genetic Testing

When to Ask About Genetic Testing

The first step in accessing genetic testing is to discuss the need with your nephrologist. You should ask about genetic testing if:

  • 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 (ESKD), including dialysis or kidney transplant.
  • You do not respond to prednisone or other treatments for your kidney disease.
  • You are of African descent.

Receiving approval for genetic testing from private insurance companies can sometimes be difficult and time consuming. If your insurance first denies a doctor’s request for genetic testing, it is important for the doctor’s office to submit an appeal.

Alternate Avenues for Genetic Testing

If patients are unable to get approval for genetic testing from their insurance, there are several other ways to obtain genetic information without having to spend money out-of-pocket.

Private Companies

Invitae Kidney Code
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).

Natera Renasight
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.

Natera welcomes all insurance plans and provides affordable testing through a variety of payment methods. They also offer discounted self-pay pricing and financial assistance through their compassionate care program.

Studies

The Rare Genomes Project
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.

Academic Studies

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 obtained.

Duke APOL1 Study
The APOL1 study is a genetic study for people of African ancestry. In the US, 13% of Black people carry APOL1 gene changes that cause kidney disease and 70% of Black people with 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 in order to determine the best way to treat and screen people.

Duke Genetic Kidney Disease Study
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 treatment. In line with this broad goal, Dr. Gbadegesin has been examining the molecular causes of NS and other inheritable kidney conditions.

Harvard Genetic Study for Kidney Patients
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.

Frequently Asked Questions

Nephrotic Syndrome is not a disease itself, but rather a group of signs and symptoms that result from damage in the part of the kidney that filters blood (glomeruli).

Common symptoms include:

  • Foamy urine (called proteinuria) caused by protein “spilling” into the urine
  • Severe swelling in parts of the body, most noticeably around the eyes, hands, feet, and abdomen (called edema)
  • Weight gain due to a buildup of extra fluid
  • Fatigue
  • Loss of appetite
  • Low levels of protein in the blood (hypoalbuminemia)
  • Higher than normal fat and cholesterol levels in the blood (hyperlipidemia)

Nephrotic Syndrome can typically be diagnosed with a urine test.

Nephrotic Syndrome can be “primary” or “secondary” in nature.

Diseases that affect only the kidneys are called primary causes of Nephrotic Syndrome. Doctors often call these diseases “idiopathic,” which means that they arise from an unknown cause. Some of these diseases include:

  • Minimal Change Disease (MCD) – most common in children
  • Focal Segmental Glomerulosclerosis (FSGS)
  • Membranous Nephropathy (MN) – most common in adults
  • IgA Nephropathy (IgAN)

Secondary Nephrotic Syndrome is caused by an underlying, systemic condition like diabetes, lupus, HIV, and others.

The Kidney Health Gateway is a website owned and operated by NephCure Kidney International. The purpose of this website is to help patients with rare forms of primary Nephrotic Syndrome get connected to expert care and cutting-edge treatment options. By answering a few questions about you or your loved one’s condition, we can provide you with a list of clinical trials and/or expert doctors in your area.

If you have additional questions, please visit NephCure.org or email Info@NephCure.org.

 

Still have questions?
See other frequently asked questions
Did you know that some forms of kidney disease can be genetic?Researchers are continually discovering genetic causes of Nephrotic Syndrome.

Learn more about genetic causes of kidney disease and find out if you may be affected.