For more than three decades, the first-line test for spotting genetic disorders in young children has been a basic laboratory assay in which a technician analyzes a toddler’s chromosomes under the microscope for unusual structural rearrangements. About four years ago, a new technology based on fluorescent probes hit the scene and, in short order, became the default assay for most testing labs.
But some insurance companies have resisted paying for the newer tests, called chromosomal microarrays, because they are more expensive than older techniques. This delay in technological uptake could be keeping many children from receiving crucial early treatment for their conditions. Now, an expert group is calling on large medical associations to adopt microarrays as the preferred genetic tests for children with unexplained autism, developmental delays or other birth defects.
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