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GTR Home > Tests > Riboflavin Transporter Deficiency Neuronopathy: gene sequencing panel

Indication

This is a clinical test intended for Help: Risk Assessment, Diagnosis, Mutation Confirmation

Clinical summary

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A rare, genetic motor neuron disease characterized by a peripheral and cranial neuropathy, neuronal loss in anterior horns and atrophy of spinal sensory tracts, causing muscle weakness, sensory loss, diaphragmatic paralysis and respiratory insufficiency, and multiple cranial nerve deficits such as sensorineural hearing loss, bulbar symptoms, and loss of vision due to optic atrophy. Depending on the transporter affected, Riboflavin transporter deficiency 2 (RFVT2) and Riboflavin transporter deficiency 3 (RFVT3) are distinguished. [from ORDO]

Conditions tested

Target population

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Not provided

Clinical validity

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Clinical utility

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Not provided

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