PPM-X 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 PPM-X 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.
Gene | Notes |
---|---|
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 |