Genetic Testing

For families facing unexplained neurological symptoms, genetic testing can be a turning point - the moment when questions begin to find answers. NBIA and childhood dementia conditions are caused by changes (mutations) in specific genes, and identifying these changes can confirm a diagnosis, connect families to research, and guide care for the future.

Understanding Genetic Testing

Genetic testing looks at a person’s DNA – the instructions that tell the body how to grow and function.
When one of these instructions contains an error, it can affect how the brain and body work. Many NBIA and childhood dementia disorders are inherited, meaning the altered gene is passed down from one or both parents.

For most families, genetic testing is the most accurate way to confirm an NBIA or childhood dementia diagnosis.
It helps answer questions like:

What is causing the symptoms?
What might happen next?
Can other family members be tested?
Are there clinical trials or research studies we can join?

“Having a name for our child’s condition didn’t change who she was – but it changed how we could help her.”
– Parent, NBIA community member

Why It’s Important

Before genetic testing became widely available, many families spent years searching for answers – moving from one specialist to another without clear results.
Today, a single test can often provide a diagnosis that explains a child’s symptoms and prevents unnecessary procedures or misdirected treatments.

Benefits of genetic testing include:

Confirmation of diagnosis – identifies the exact condition causing symptoms.
Better medical planning – guides specialists in choosing the most effective therapies and monitoring needs.
Family awareness – helps parents understand inheritance patterns and risks for future children.
Research opportunities – opens the door to clinical trials or registries for specific NBIA or dementia types.
Community connection – once a diagnosis is known, families can join condition-specific support groups worldwide.

Types of Genetic Tests

Depending on your child’s symptoms and medical history, doctors may recommend one of the following tests:
1. Targeted gene panel
Looks at a group of genes already known to cause NBIA or related neurodegenerative disorders.
This is often the first step when symptoms or MRI findings suggest a specific type (for example, PKAN or BPAN).

2. Whole exome sequencing (WES)
Examines nearly all the protein-coding genes in the genome.
It’s used when the cause isn’t clear, or if a targeted panel doesn’t find a result. This test can reveal rare or previously unknown variants.

3. Whole genome sequencing (WGS)
Analyzes almost all of a person’s DNA, including non-coding regions.
It provides the most complete picture and can identify changes missed by other tests.

4. Carrier and family testing
If a genetic change is found in your child, parents and siblings may be offered testing to see whether they carry the same variant.
This helps families understand inheritance patterns and future risks.

Vertical black and white illustration of an elongated DNA double helix with evenly spaced twisting loops and ladder-like internal lines.

How the Process Works

1. Referral and counseling
Your neurologist or genetic counselor explains the testing options, benefits, and possible outcomes. They’ll help you decide which test best fits your situation.
2. Sample collection
Most tests use a small blood draw, cheek swab, or saliva sample.
3. Analysis and interpretation
The DNA sample is sent to a specialized laboratory. Results can take several weeks or months, depending on the test.
4. Results discussion
When results are ready, your healthcare team explains what they mean – whether a known mutation was found, if results were unclear, or if further testing is needed.

Understanding the Results

Genetic test results usually fall into one of three categories:

Positive (pathogenic variant identified)
Confirms the presence of a disease-causing mutation. This establishes a diagnosis and may clarify prognosis.
Variant of uncertain significance (VUS)
A change was found, but doctors don’t yet know whether it causes disease. Ongoing research or family testing can help clarify.
Negative
No disease-causing variants were found – but that doesn’t always mean the condition isn’t genetic. Some mutations are still undiscovered or outside current testing limits.

Even when results are uncertain, they can still help families access support and keep connected with researchers tracking new discoveries.

Genetic Counseling - Support for Families

Genetic information can feel overwhelming. A genetic counselor helps families understand test results, inheritance patterns, emotional impacts, and reproductive options.

Counselors can also help you:

Explain results to relatives.
Connect to advocacy and research programs.
Plan for family testing or next steps.

The NBIA Disorders Association and Childhood Dementia Initiative both maintain lists of genetics clinics and counseling services worldwide.

A woman and her young daughter sit together on a beige couch in a bright, modern clinic. The child holds a teddy bear and looks up at a doctor standing nearby, while the mother listens attentively. The setting is clean and minimalist with white walls and natural light.

A smiling young girl gives a high five to a doctor in a white coat while her mother stands behind her, smiling. They are in a bright clinic room with large windows and natural light.

A doctor in a white coat reviewing a clipboard while seated across from a parent and child in a bright clinic room; the child sits on the exam table and the parent stands nearby, with shelves and medical equipment visible in the background.

Questions to Ask Your Doctor

1. Which genetic test is best for my child’s symptoms?
2. How long will results take, and how will they be shared?
3. What does a “variant of uncertain significance” mean for our family?
4. Can we participate in research if we get a confirmed diagnosis?
5. Is genetic counseling covered by insurance or patient assistance programs?