Care Team, Therapy & Support
Genetic testing
Genetic testing examines a person's genes or chromosomes to identify changes that may explain a condition.
In short: Genetic testing
- It can identify a syndrome underlying an encephalocele.
- Types include karyotype, microarray, and gene testing.
- Results can clarify the diagnosis and recurrence risk.
- It is interpreted with help from genetics specialists.
What it is
It is laboratory testing that examines a person's genes or chromosomes to identify changes that may explain a condition. It ranges from broad chromosomal tests to specific gene tests.
Understanding Genetic testing
When an encephalocele may be part of a syndrome, genetic testing can help identify an underlying cause. Types include a karyotype (large chromosomal changes), chromosomal microarray (smaller changes), and targeted gene testing (specific genes such as CEP290). Results can clarify the diagnosis, inform the outlook, and estimate recurrence risk for future pregnancies. Because results can be complex, they are interpreted with help from a geneticist and genetic counselor, who explain what they mean for the family.
Why it matters
Understanding genetic testing helps families see how an underlying cause can be identified, and how results — interpreted with genetics specialists — can clarify the diagnosis and recurrence risk.
Common questions
What does genetic testing examine?
A person's genes or chromosomes.
What are the types?
Karyotype, chromosomal microarray, and gene testing.
What can results clarify?
The diagnosis and recurrence risk.
Bottom line
Genetic testing examines genes or chromosomes to identify a cause, clarifying the diagnosis and recurrence risk.
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