Neurocutaneous melanocytosis is a rare congenital disorder characterized by abnormal aggregations of melanin-producing cells within the central nervous system (leptomeningeal melanocytosis; may also involve the parenchyma) associated with large or giant congenital melanocytic nevi. The disease may be asymptomatic or may be associated with severe and variable progressive neurological deterioration.
This entity is caused by somatic mutations in the NRAS gene.
Neurocutaneous melanocytosis: 1 / 50,000-200,000 (ORPHA:2481)
Service is indicated in the presence of the characteristic clinical signs of the disease.
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2) Sample collection
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3) Pack the sample
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4) Send the sample & the request
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5) Result: the report
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Turnaround time (TAT): 25 days
Ref. S-202314152
Priority Genes : Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
* Candidate Genes: Not enough evidence in humans, but potentially associated with the disease.
Neurocutaneous melanocytosis
