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GTR Home > Tests > NEK1 - NGS including CNV analysis

Indication

This is a clinical test intended for Help: Diagnosis

Clinical summary

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Imported from OMIM

Amyotrophic lateral sclerosis-24 (ALS24) is a fatal neurodegenerative disease characterized by adult-onset loss of motor neurons (Brenner et al., 2016).

Clinical features

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Imported from Human Phenotype Ontology (HPO)

  • Amyotrophic lateral sclerosis
  • Dysphagia
  • Dysarthria
  • Spasticity
  • Respiratory insufficiency
  • Hyperreflexia
  • Tetraparesis
  • Muscular atrophy
  • Bulbar signs
  • Caudate atrophy
  • Hippocampal atrophy
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Conditions tested

Target population

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Not provided

Clinical validity

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This panel should be performed in all individuals suspected of having an overlapping clinical phenotype. Confirmation of a clinical diagnosis through genetic testing can allow for genetic counseling and may direct medical management. Genetic counseling can provide a patient and/or family with the natural history of the condition, identify at-risk family members, provide reproductive risks as well as preconception/prenatal options, and allow for appropriate referral for patient support and/or resources.

Citations

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Clinical utility

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IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.