Sponsored, no-charge genetic testing and counseling for chronic kidney disease

 

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Sponsored, no-charge genetic testing and counseling for chronic kidney disease

Reata Pharmaceuticals and Invitae have partnered to offer sponsored, no-charge genetic testing and counseling for patients with chronic kidney disease (CKD) to facilitate diagnosis of several rare forms of CKD.

30 million American adults have CKD and millions of others are at increased risk.1-3 Those with a family history of kidney disease are considered at high risk to develop CKD and to have an underlying genetic cause of disease. Early detection and accurate diagnosis are critical to slowing the progression of CKD.1,3-5

Program eligibility

To be eligible for this sponsored, no-charge program individuals are required to have:

eGFR ≤ 90mL/min/1.73m2

AND

Must have at least one of the following:

  • Hematuria

  • Family history of kidney disease

  • Biopsy confirming FSGS

OR

Family member of a patient with a confirmed or suspected diagnosis of Alport syndrome or Focal Segmental Glomerulosclerosis (FSGS) 

Family testing

KIDNEYCODE also offers family variant testing (FVT) for all blood relatives of patients who test positive through KIDNEYCODE testing at no additional charge within 90 days of the original patient's test. This service includes full analysis of the gene in which the original family member's variant was identified.

About CKD

Early detection and accurate diagnosis are critical to slowing the progression of CKD.1,3-5 CKD often has no symptoms in stages 1-3 and can go undetected until the disease is advanced (stages 4-5).

  • In a recent exome sequencing analysis of 3315 patients with CKD3:

  • Approximately 10% had a genetic cause

  • A family history of kidney disease or kidney disease of unknown origin dramatically increased the likelihood of finding a genetic basis of disease

  • For 34% of those with a genetic basis of disease, the genetic findings reclassified their disease or provided a cause previously undiagnosed.3

  • Gene abnormalities associated with rare diseases, such as Alport syndrome, were found with much greater frequency (30%) than previously reported.3

  • FSGS in adults commonly has a genetic basis, a finding that can immediately impact treatment decisions.6

Benefits of testing

The benefits of genetic testing include the ability to:

  • Identify risk of disease for patients and their family members

  • Unlock precise genetic information that can guide next steps

  • Help assess prognosis and inform disease management strategies

  • Provide information about support services such as patient advocacy organizations

Invitae Progressive Renal Disease Panel

The Invitae Progressive Renal Disease Panel includes 17 genes that are known to be associated with chronic kidney disease, including Alport syndrome, FSGS, and one form of ADPKD (PKD2).

ACTN4

ANLN

CD2AP

COL4A3

COL4A4

COL4A5

CRB2

HNF1A

INF2

LMX1B

MYO1E

NPHS1

NPHS2

PAX2

PKD2

PKHD1

TRPC6

View panel

 

Advances in genotyping and sequencing technologies have enabled greater clinical insights into the classification of inherited CKD. Beyond diagnostic confirmation, this deeper knowledge can provide insights into the natural progression of a patient’s disease so you can make fully informed healthcare decisions together, including whether or not to test at-risk family members.

Ordering made easy

Place your order

Collect a specimen

Results

To place a paper-based order, download the paper order form.

To collect a specimen:

  1. Order a specimen collection kit (blood or saliva)*
  2. Collect the specimen and ship it back to Invitae
  3. Include the signed eligibility criteria form with the specimen
  4. For additional information, please see specimen and shipping requirements

To receive results:

  1. Once Invitae receives the sample, you will receive the results in 10-21 calendar days, on average
  2. If you created an online account, you can view the status of your order by logging into your account
  3. You will receive a notification email once the test results are ready

*Blood, saliva, and assisted saliva samples are accepted; DNA samples are not accepted for this program.

Support every step of the way

Client services

Invitae is available to answer your questions or help you through the testing process.

CONTACT

 

Sponsored genetic counseling

Individuals tested through the KIDNEYCODE program are eligible for post-test genetic counseling to help them understand their test results. This service is provided through GeneMatters, a third-party genetic counseling service, and is made available by Invitae at no charge as part of the program.


To schedule a genetic counseling appointment, please contact GeneMatters at 1-866-741-5331 or schedule online at www.gene-matters.com using partner code: CKD.

Confidence begins with quality

  • Commitment to quality: Invitae’s >1000 patient peer-reviewed study, published in the Journal Molecular Diagnostics, the official journal of the Association for Molecular Pathology, shows equivalence to established standards.

  • Sample options: blood and saliva kits provided free of charge.

  • Strong team: Invitae has more than 300 experts in genetics, bioinformatics, engineering, technology, and commercial development.

About Invitae


Invitae is a genetic information company whose mission is to bring genetic information into mainstream medical practice to improve the quality of healthcare for billions of people. Specializing in genetic diagnostics for hereditary disorders, Invitae is aggregating the world’s genetic tests into a single service with better quality, faster turnaround time, and a lower price than most single-gene tests today.

About Reata

Reata is a clinical-stage biopharmaceutical company that develops novel therapeutics for patients with serious or life-threatening diseases by targeting molecular pathways involved in the regulation of cellular metabolism and inflammation.

Disclaimer

While Reata provides certain financial support for this program, tests and services are performed by independent third parties. Healthcare professionals must confirm that patients satisfy certain criteria to use the program. Reata receives certain aggregated and de-identified data from this program, but at no time does Reata receive individually identifiable patient information. Reata receives certain contact information for healthcare professionals who use this program. Genetic testing and counseling are available in the US only. Healthcare professionals and patients who use this program have no obligation to recommend, purchase, order, prescribe, promote, administer, use or support any Reata product. This program does not replace directly or indirectly the professional medical advice of a treating physician or healthcare professional. All treatment related decisions must be determined by a physician.

 

References

  1. The facts about chronic kidney disease. National Kidney Foundation website. www.kidney.org/atoz/content/about-chronic-kidney-disease#facts. Accessed July 2019.
  2. Kidney Disease Statistics for the United States/Fast Facts. National Institute of Diabetes and Digestive and Kidney Diseases website. www.niddk.nih.gov/health-information/health-statistics/kidney-disease. Accessed July 2019.
  3. Groopman EE, Marasa M, Cameron-Christie S et al. Diagnostic utility of exome sequencing for kidney disease. NEJM. 2018;doi:10.1056.
  4. Levin A, Tonelli M, Bonventre J et al. Global kidney health 2017 and beyond: a roadmap for closing gaps in care, research, and policy. Lancet. 2017;390:1888-1917.
  5. U.S. Department of Health and Human Services. Remarks to the National Kidney Foundation. March 4, 2019. Washington, DC.
  6. Gribouval O, Boyer O, Hummel A et al. Identification of genetic causes for sporadic steroid-resistant nephrotic syndrome in adults. Kidney Int. 2018:94(5):1013-1022.