Our Approach to a Diagnosis

The MNG neurobehavioral disorder portfolio encompasses a variety of rare genetic neurological disorders, including those related to cognition, neurodevelopment, and neurodegeneration. In many cases, neurobehavioral diseases can be categorized in multiple or all the sub-categories. Due to the complex and diverse presentation of these neurological diseases, MNG's diagnostic approach is to offer both comprehensive panels with many clinically relevant genes as well as more focused panels designed around a well-characterized and distinct phenotype.

Neurobehavioral Disorder Tests We Offer

Intellectual Disability

Intellectual disability is a complex and genetically heterogeneous disorder characterized by significant limitations in both intellectual functioning and adaptive behavior. This generalized neurodevelopmental disorder can present as part of a syndrome or as an isolated phenotype.

Our Comprehensive Intellectual Disability/Autism panel includes a significant number of genes known to cause both syndromic and nonsyndromic forms of intellectual disability. For patients with a clear syndromic or nonsyndromic phenotype, we also offer the Syndromic Intellectual Disability and Nonsyndromic Intellectual Disability panels. Finally, we also offer sequencing panels that target Macrocephaly and Overgrowth Syndromes, Microcephaly, and Hydrocephalus.

Neurodegeneration

Focusing on progressive degeneration and loss of function of neurons, MNG offers testing for the complete profile of disorders in this category. Repeat expansion testing is available for Alzheimer’s and Huntington’s disease with and without NGS panel options increasing the opportunity for a diagnosis.

MNG’s diagnostics in dementia follows a similar approach to intellectual disability including both NGS and repeat expansion testing when clinically relevant. The Comprehensive Dementia panel has the option to include Huntington’s Disease (HTT) and Amyotrophic Lateral Sclerosis (C9orf72) repeat expansion testing. Additionally, we provide a more focused Alzheimer Disease and Frontotemporal Dementia panel with and without C9orf72 repeat expansion testing.

Brain Malformations

Congenital white matter disorders can lead to developmental delay and seizures, and in some cases, cause progressive decline. Neuronal migration abnormalities and misfolding of brain structures are also addressed in this category, rounding out the diagnostic options.

For disorders affecting white matter, we offer the Comprehensive Leukodystrophy panel, which includes complimentary mitochondrial genome sequencing with deletion analysis. Panels focused on Vanishing White Matter disease, Non-Mitochondrial Leukodystrophy, and Mitochondrial Leukodystrophy are also available.