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-Associated Disorders

Approximately 1 in every 150 women and 1 in every 470 men in the United States carries a change in the FMR1 gene that can impact both health and behavior.1 Ambry offers comprehensive FMR1 repeat analysis and methylation testing to assist in providing a molecular diagnosis, which can inform appropriate treatment recommendations for individuals affected with fragile X-associated disorders (FXD).

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.

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