Diagnosis
Why diagnosing GAND can be challenging and how it is confirmed.
GAND is an extremely rare genetic disorder, and the path to diagnosis is often long. Many families experience years of uncertainty before receiving a definitive diagnosis.
Early signs usually appear in infancy or early childhood and may include developmental delay, hypotonia, feeding difficulties, seizures, and differences in behavior or sensory processing.
How is GAND diagnosed?
Standard medical tests such as brain imaging or metabolic screening are often normal or non-specific in children with GAND.
The only reliable way to confirm GAND is through advanced genetic testing, such as whole exome sequencing (WES) or whole genome sequencing (WGS), which can identify a pathogenic change in the GATAD2B gene.