Genetic Testing for Hearing Loss
What to Expect

What to Expect at Your First Visit for Genetic Testing for Hearing Loss

It can feel overwhelming to learn that genetics may be the cause of your child's hearing loss.

About 30% of children with sensorineural hearing loss (SNHL) have a genetic syndrome as a part of their hearing loss. This disorder is a combination of medical conditions that occur together and have a single cause. Genetic testing identifies many of these genetic disorders.

Once you understand the genetic syndrome that causes your child's hearing loss (and possibly other health conditions), you can take the first step in treating and managing it so they can live a full and healthy life.

Clinical geneticists are doctors with special training in finding the causes of disorders like hearing loss. Genetic counselors are trained to explain genetic information to families like yours. ENTs (ear nose throat doctors, also known as otorhinolaryngologists) are doctors who specialize in conditions related to the head and neck. You may meet with a geneticist, genetic counselor, or ENT to discuss genetic testing options for you and your family related to hearing loss.

Genetic testing can help you:

Identify the exact cause of your child's hearing loss
Reduce or eliminate the need for other invasive and costly medical tests
Provide you with information about your child's future hearing and other factors
Help you and your child's pediatrician decide the best treatment and long-term medical management for your child
Explain your chances of having another child with hearing loss

Genetic testing at the Genetics and Genomics Diagnostic Laboratory can help you understand the causes of your child's hearing loss. The lab works in partnership with the Ear and Hearing Center.

Making an Appointment for Genetic Testing for Hearing Loss

To make an appointment, contact the Ear and Hearing Center.

For international patients, please fill out and send this online form. A staff member will contact you within 48 hours.

To refer a patient for genetic counseling or evaluation, contact the Division of Human Genetics.

How to Prepare for Your First Visit for Genetic Testing for Hearing Loss

We recommend checking with your insurance company about your coverage before your first visit. Most insurance plans, including Medicaid, reimburse genetic testing. But, you are responsible for all copays and deductibles. All genetic tests for hearing loss will be pre-certified before testing.

On the Day of Your First Visit for Genetic Testing for Hearing Loss

Please let us know if you or your child have any concerns or special needs that will make your visit more comfortable.

Arriving at Your Appointment

Cincinnati Children's Hospital Medical Center is located near downtown Cincinnati. Whether you are coming to our Burnet Campus or one of our neighborhood locations, our visiting section can help guide you.

We recommend you arrive about 30 minutes early. This allows you time to park, find our office, and register for your first visit. If you'll be more than 30 minutes late, please contact us to let us know.

At Your Appointment

During your first visit, the team will review your child's medical history. They'll also review your pregnancy history and family history. The geneticist will examine your child to check for any signs of a genetic syndrome related to hearing loss. The team also may order other tests and a follow-up visit to discuss test results. We'll need a small blood sample (or other tissue) for analysis.

After Your First Visit for Genetic Testing for Hearing Loss

After genetic testing has been completed, the results will be communicated to you either over the phone or in a follow up appointment. Depending on the testing results, your child may be referred to other providers for further discussion, evaluation or additional genetic testing.

Frequently Asked Questions

Is my child’s hearing loss genetic?

At least half of all children with inner ear (sensorineural) hearing loss have a genetic cause of their hearing loss. More than 100 genes tell the ear how to hear. Mutations (changes) in any one of those genes may cause hearing loss. Nerve-based hearing loss is likely to be genetic if:

Hearing loss is present at birth or in early childhood
Hearing loss is related with other problems in the child
Hearing loss affects both ears
Hearing loss is severe to profound
There is a family history of hearing loss

How can my child’s hearing loss be genetic if no one else in the family has hearing loss?

Genetic hearing loss is related to the passage of genes that cause hearing loss through the family. Your child’s hearing loss may be genetic, even if no other people in your family have hearing loss.

How Hearing Loss Is Genetic

A gene is a packet of information that tells our bodies to do a specific job. Many genes work together to tell the ear to hear. Genes are made of a chemical called DNA (deoxyribonucleic acid). There are about 20,000-25,000 genes in our bodies. At least 100 of these genes play a role in hearing. In our bodies, genes come in pairs. One member of each pair is inherited from a child’s mother, and one from a child’s father. Most of the time, both genes within a pair are nearly identical. Sometimes, a small change occurs within a gene that may be harmful. A change in one of the many genes that control the functioning of the ear may lead to hearing loss.

Common Patterns of Inheritance of Hearing Loss

Autosomal Recessive Inheritance (AR): Most genetic hearing loss in childhood is inherited as an AR condition. AR conditions arise when both members of a gene pair fail to work properly. In these families, a child inherits a change that causes hearing loss from each parent. The parents can hear because they have both the working gene, and the non-working gene that causes hearing loss. These parents are described as carriers of hearing loss. In these families, each child has a one-in-four chance of hearing loss.

A carrier of a genetic disorder is someone who has a change in one of his or her genes without showing symptoms of the disorder. When two people carry a genetic disorder they can pass the disorder on to their children. So, it is possible to have a child with genetic hearing loss, even when parents are hearing and have no family history of hearing loss.

Autosomal Dominant Inheritance (AD): In some families, parents or other relatives do have hearing loss. Most genetic hearing loss that occurs in adolescence or adulthood is inherited as an AD condition. AD conditions arise when a single member of a gene pair fails to function properly. In these families, a child inherits a change that causes hearing loss from only one parent. Typically, that parent has hearing loss as well. In these families, each child has a one-in-two chance of hearing loss, and a 50 percent chance of hearing.

Hearing loss may also be passed along in a family as X-linked recessive or mitochondrially inherited traits. Your genetic counselor can explain these in more depth.

What is genetic testing?

Genetic testing is the complex process by which the more common genes related to hearing loss are analyzed in the laboratory. A small sample of blood (or other tissue) is needed for analysis. Cincinnati Children’s tests for 23 genes associated with hearing loss. About 80 percent of the genetic causes of hearing loss are identified by these tests.

How does my ear produce hearing?

The ear has three main parts: outer, middle and inner.

The outer ear (the part you can see) opens into the ear canal. The eardrum separates the ear canal from the middle ear. Small bones in the middle ear help transfer sound to the inner ear. The inner ear contains several channels of fluid and specialized cells that detect fluid motion. These cells are connected to the auditory (hearing) nerve, which leads to the brain.

Any source of sound sends vibrations or sound waves into the air. These funnel through the ear opening, down the ear, canal, and strike your eardrum, causing it to vibrate. The vibrations are passed to the small bones of the middle ear, which transmit them to the fluid of the inner ear. Here, the fluid vibrations become nerve impulses and go directly to the brain, which interprets the impulses as sound (music, voice, a car horn).

If a problem arises in the outer or middle portion of the ear, a conductive (or mechanical) hearing loss (CHL) is present. Common causes of CHL are fluid in the middle ear from ear infections or an ear plug. If the inner ear or hearing nerve is damaged, a sensorineural hearing loss (SNHL) develops. The common forms of SNHL are from genetic (hereditary) factors or infections (i.e., meningitis). In general, CHL can be corrected with medicine or surgery, while SNHL is usually not reversible.

Do you offer medical consultation and genetic counseling services?

Complete medical consultation and genetic counseling is available through the combined efforts of the Ear and Hearing Center and the Division of Human Genetics (513-636-4760, option 1) at Cincinnati Children’s. For questions, contact us.

Genetic Testing for Hearing LossWhat to Expect