X linked Intellectual Disability Panel (with FMR1 expansion)

Is a 106-gene panel that includes assessment of non-coding variants.
Is ideal for patients with a clinical suspicion of X-linked intellectual disability.

This test includes the analysis of the CGG repeat region in the 5’-UTR of the FMR1 gene using PCR amplification and fragment size analysis to determine CGG repeat length.Intellectual disability (ID) is more common in males than females in the general population, presumed to be due to mutations in genes on the X chromosome. X-linked ID accounts for approximately 16% of males with intellectual disability. In addition to karyotype abnormalities and Fragile X syndrome, numerous X-linked genes exist where mutations have been described that result in either syndromic or non‐syndromic ID. Epileptic seizures accompany ID in almost half of these X-linked disorders. This panel allows for systematic screening of X-linked nonsyndromic and syndromic intellectual disability