Rett Syndrome (MECP2 Single Gene Test)
This is a next generation sequencing (NGS) test appropriate for individuals with clinical signs and symptoms, suspicion of, or family history of Rett Syndrome. Sequence variants and/or copy number variants (deletions/duplications) within the MECP2 gene will be detected with >99% sensitivity. Variants classified as unknown significance (VUS), likely pathogenic, or pathogenic will be reported. Benign and likely benign variants are generally not reported. Reflex to clinical exome ("All-in-One") and whole exome ("Whole-in-One") is available by request.
|MECP2||Currently available technologies (NGS and qPCR) are not amenable to detection of single exon deletions/duplications of exon 1 in the MECP2 gene.|
|CPT Code||81302, 81304|