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GTR Home > Tests > Genomic Unity Motor Neuron Disorders Analysis (includes AR, C9ORF72 STR analysis)

Genomic Unity Motor Neuron Disorders Analysis (includes AR, C9ORF72 STR analysis)

  • GTR Test IDHelp: GTR000576334.5
  • Last updated: 2022-02-06
  • Test version history

Clinical testHelp for Hereditary spastic paraplegia
Offered by Variantyx, Inc.

Indication

This is a clinical test intended for Help: Diagnosis

Clinical summary

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A genetically and clinically heterogeneous group of slowly progressive neurological disorders which in the pure form is characterized by pyramidal signs (weakness, spasticity, brisk tendon reflexes, and extensor plantar responses) predominantly affecting the lower limbs and with possible association of sphincter disturbances and deep sensory loss; and in the complex form by the addition of variable neurological or non-neurological features. [from ORDO]

Inheritance pattern

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Autosomal recessive inheritance

Conditions tested

Disease mechanism

loss of function

Target population

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Patients with clinical features of motor neuron disorders including Amyotrophic lateral sclerosis, hereditary spastic paraplegia, motor neuropathies and spinal muscular atrophy.

Citations

Not provided

Clinical validity

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Not provided

Clinical utility

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Not provided

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