Genetic Testing

When a child is diagnosed with ALD, among the first questions many families ask are “Are our other children at risk?” or “Can we safely have more children?” Genetic testing is the only way to answer that question. DNA-based blood tests can accurately identify both women who are carriers of the gene, and boys and young men who have ALD and may not yet be showing symptoms.

Research shows that screening not just the parents and siblings of boys with ALD, but extended family members as well, is the best way to detect the disease at a time when treatment can be beneficial.

Although it is not currently feasible to screen all pregnant women for the ALD mutation, prenatal tests and genetic counseling are available to help families plan their pregnancies and avoid passing the ALD gene on to their children.

Amniocentesis and chorionic villus sampling (CVS) can both detect the ALD abnormality, but only if testing laboratory or physician is specifically looking for it.

Doctors can contact the Kennedy Krieger Institute to request genetic testing.