Rothmund-Thomson Syndrome (RECQL4 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 Rothmund-Thomson Syndrome. Sequence variants and/or copy number variants (deletions/duplications) within the RECQL4 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.
|RECQL4||Single exon deletions/duplications of exon 1 to 3 of the RECQL4 gene (NM_004260.3) are not reliably detected by this method.|