Fragile X DNA Analysis (Fragile X FMR1 Repeat Analysis)

FMR1 is actively involved during embryogenesis, contributing to fetal brain and CNS development. Mutations within the FMR1 gene are associated with Fragile X syndrome, Fragile X tremor/ataxia syndrome (FXTAS) and premature ovarian failure (POF). Fragile X syndrome diagnosis involves the expansion of an unstable CGG trinucleotide repeat sequence to a full mutation.

Microarrays: SNP+CGH Array and 180K Oligo Array

Genomic imbalances are an underlying cause of syndromic or non-syndromic developmental delay, mental retardation, autism spectrum disorder, dysmorphic features, birth defects or other congenital anomalies and numerous genetic syndromes.

CDKL5 (CDKL5-Related Infantile Spasms and Atypical Rett Syndrome)

Mutations are X-linked dominant and the majority are de novo.

Testing for CDKL5-Related Infantile Spasms should be considered in those with Atypical Rett Syndrome, MECP2-negative Rett Syndrome, X-Linked Infantile Spasms (ISSX, West syndrome, or the Hanefield variant), complex seizures disorders with mental retardation, X-linked Mental Retardation, and Autism Spectrum Disorder.


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