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Other Inherited Disorders

Other Inherited Disorders

Other inherited disorders

About Other Inherited Disorders

MNG is well known for expertise in diagnosing the most complex neurogenetic challenges. In addition to our core disease categories, we offer next-generation sequencing (NGS) with copy number analysis in other areas of neurology, where clinical presentation may impact multiple organ systems. These include: neurosensory, neurovascular, neurocutaneous, and nephrology conditions. 

Other Inherited Disorders Tests We Offer

Neurosensory

Neurosensory disorders include a variety of conditions affecting the five major senses, with a focus on vision and hearing disorders. MNG offers a Comprehensive Hearing Loss panel and a Comprehensive Vision Loss & Eye Disorders panel, both including mtDNA analysis. Subpanels including Stickler Syndrome and Usher Syndrome are also available. MNG also includes a Pain Syndrome panel in this category, which includes genes covering several phenotypes of hereditary neurological pain.

Neurovascular

Neurovascular disorders affect the complex relationship between nerves and blood vessels, including aneurysms, strokes, and subarachnoid hemorrhages. At MNG, the expertise in both neurological and cardiovascular disease naturally results in the expansion of test offerings to include more specific neurovascular conditions, such as StrokeEhlers Danlos and Aneurysm Syndromes, and Familial Hemiplegic Migraine.

Neurocutaneous

Neurocutaneous disorders involve the nervous tissue and its relationship with surrounding organs. MNG’s diagnostic panels for Neurofibromatosis and Tuberous Sclerosis are important additions to our testing portfolio. Both disorders have an autosomal dominant inheritance pattern, a wide variety of symptomatology, and subsequent tumor growth.1,2

Nephrology

MNG includes major nephrology disorder testing in our diagnostic portfolio, as the clinical symptoms impact both the muscle and nervous systems. Disorders such as Polycystic Kidney Disease and Bartter/Gitelman Syndrome can present with muscle weakness and spasms due to the kidneys’ inability to properly filter salt ions.3 

Whole Exome Sequencing for Comprehensive Diagnostics

For disorders that fall outside of our NGS panels, MNG offers whole exome sequencing with the MNG Exome. This comprehensive diagnostic tool features sequencing of all protein-coding exons in the human genome with copy number analysis and complimentary mitochondrial genome sequencing with deletion analysis.

  1. Neurofibromatosis type 2. Genetics Home Reference. https://ghr.nlm.nih.gov/condition/neurofibromatosis-type-2. Published September 10, 2019. Accessed September 12, 2019.
  2. Tuberous sclerosis complex. Genetics Home Reference. https://ghr.nlm.nih.gov/condition/tuberous-sclerosis-complex. Published September 10, 2019. Accessed September 12, 2019.
  3. Bartter Syndrome. Genetics Home Reference. https://ghr.nlm.nih.gov/condition/bartter-syndrome#. Published September 10, 2019. Accessed September 12, 2019.