Neurology

FRAXE (FMR2) DNA Analysis

FRAXE has been associated with the silencing of the FMR2 gene, which lies just beyond the FMR1 gene on the X chromosome; CGG repeat expansion of the FMR1 gene is associated with Fragile X Syndrome. The expansion and hypermethylation of the CCG repeats in the 5'UTR of FMR2 leads to non-specific forms of intellectual disability.

LEOPARD Syndrome

Ambry offers testing for the most common genetic causes of LEOPARD syndrome in order to allow people to make informed decisions about their healthcare and medical management.

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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