Overview

Overview

The joint Center for Personalized Genetic Healthcare (CPGH)-Glickman Urological and Kidney Institute Renal Genetics Program at the Cleveland Clinic provides evaluation and personalized management for individuals with known or suspected genetic kidney disorders.

Most common conditions that are evaluated in this clinic include:

  • Cystic kidney diseases including autosomal dominant cystic kidney disease and autosomal recessive cystic kidney disease.
  • Glomerular diseases including focal segmental/global glomerulosclerosis and systemic genetic disorders involving glomeruli of kidneys such as Alport syndrome, atypical hemolytic uremic syndrome (aHUS) and Fabry disease.
  • Electrolyte disturbances including hypokalemia/hyperkalemia, hypocalcemia/ hypercalcemia, hypomagnesemia or hypophosphatemia with suspicion for a genetic cause, such as Gitelman syndrome, Bartter syndrome, Gordon syndrome, Liddle syndrome, renal tubular acidosis, familial hypocalciuric hypercalcemia, hypophosphatemic rickets, etc.
  • Early onset kidney stones or nephrocalcinosis with suspicion for a genetic cause, such as primary hyperoxaluria, cystinuria, Dent disease, adenine phosphoribosyltransferase (APRT) deficiency.
  • Congenital anomalies of kidneys and urinary tract (CAKUT)

Scheduling an Appointment

Prior to requesting an appointment, you will need to obtain a referral from your physician. If you are a patient outside the Cleveland Clinic Health System, please have your physician complete a referral form and fax to 216.445.6935. To learn more about how to prepare for your appointment, review the "What to Expect" tab.

Download our Referral Form

Our Team

Our Team

As one of the rare renal genetics clinics in the country, the joint renal genetics program at the Cleveland Clinic is committed to providing comprehensive clinical genetic services, education and support to patients and family members. Our team is strengthened with experts specialized in both nephrology and genetics providing personalized care by incorporating your genetic information into your kidney disease management and overall health care plan.

Clinical Geneticists

Nephrologists

Genetic Counselors

  • Mary-Beth Roberts, MS, CGC
  • Sarah Mazzola, MS, CGC
  • Deanna Leingang, MS, CGC (virtual visits only)
Who Should Be Seen

Who Should Be Seen

You should consider having a genetic evaluation if you have a family and/or personal history of the following:

  • Known genetic conditions (e.g., PKD, Alport syndrome, Fabry disease, primary hyperoxaluria)
  • Chronic kidney disease (CKD) with a unknown cause, particularly if you have a family history of CKD
  • Nephrotic syndrome or FSGS with a positive family history
  • aHUS
  • Unexplained chronic electrolyte disturbances
  • Recurrent kidney stones or nephrocalcinosis with onset of age before 30 years
  • Congenital anomalies of kidneys or urinary tracts such as renal dysplasia
  • Families concerned about recurrence risk in future pregnancies

Contact your primary care provider or the Center for Personalized Genetic Healthcare (CPGH) to discuss whether a genetic evaluation is appropriate for you.

What to Expect

What to Expect

Before Your Visit

Physician Referral

Prior to requesting an appointment, you will need to obtain a physician referral. If you are a patient outside the Cleveland Clinic health system, please have your physician complete a referral form and fax to 216.445.6935.

Collect Your Medical Records

If you are a patient outside the Cleveland Clinic health system, you should send an authorization for the release of medical records form to each external facility. You may arrange to have medical records faxed (30 pages or less) to our department at 216.445.6935 or sent postal mail. If genetic testing or a kidney biopsy has already been completed, please include a copy of those reports.

Cleveland Clinic
Center for Personalized Genetic Healthcare
Attn: Renal Genetics
9500 Euclid Ave. R4
Cleveland, OH 44195

Collect Your Family Health History

To make the most of your visit, you should gather family health history information prior to your appointment. It may be helpful for you to talk with your relatives about genetic or developmental conditions running in your family. Specifically, you will want to discuss the following:

  • Who in the family has been diagnosed with a genetic condition, and how are they related to you?
  • What type of genetic disorder did each affected relative have (e.g. PKD, Alport syndrome, Bartter syndrome)?
  • At what age was each individual diagnosed with their genetic condition?
  • * If a precise age is not known, it can be helpful to determine the approximate decade in which they were diagnosed (e.g., diagnosed in their 40s, or 70s).
  • Has anyone in the family had genetic testing?

At Your Visit

We will provide personalized, expert genetic evaluation, management, genetic counseling and education to you and your family. During your visit, you will see a renal genetics expert (genetic counselor and/or clinical geneticist/nephrologist) for evaluation and management. You may also be scheduled with other Cleveland Clinic providers during your visit depending on your medical needs and physician availability.

Our comprehensive method for genetic counseling involves:

  • Diagnosis of a genetic condition through review of family and medical history, examination by a clinical geneticist/nephrologist, and if appropriate, genetic testing
  • Education about your specific diagnosis and any associated health risks, if known
  • Suggestions for future management
  • Discussion of health risks to family members
  • Recommendations regarding genetic testing for at-risk family members and coordination of testing, if desired
  • If genetic testing is indicated, blood can usually be drawn on the same day following your appointment.

Following Your Visit

After your visit, it may take anywhere from a few days up to two weeks for your clinical appointment notes to reach the healthcare providers that you requested to receive a copy. We are also glad to communicate with your healthcare providers about your case as needed. You are always welcome to follow up with us with questions regarding your visit.

Cost & Insurance

Cost & Insurance

Genetic counseling and testing are billed as two separate services:

Genetic Counseling

There currently is no charge for genetic counseling visits. Please note this policy is subject to change. To confirm the cost of genetic counseling visits, contact us at 216.636.1768.

Specialist Physician Visits

Most insurance companies will cover an in-person specialist evaluation with a referral from your primary care provider. Out-of-pocket costs will vary depending upon the specifics of your plan (e.g. deductibles, co-pays, etc.).

Genetic Testing

If genetic testing is indicated, your genetic counselor will discuss costs and insurance coverage during your appointment.

Some patients are concerned that their genetic information may be used against them. To learn about your patient rights and protections in place to prevent genetic discrimination, read our article on GINA.

To learn more about billing options and financial assistance, review our billing and insurance information.