Neurocutaneous and neuro-oncology disorders are a diverse group of conditions involving the brain, spine and other body systems. Diagnostic genetic testing can play an important role in clinical evaluation for these conditions. To better serve the needs of clinicians and patients, Ambry offers genetic testing options for the most common primary neurocutaneous and neuro-oncology disorders.
Neurocutaneous and neuro-oncological disorders can cause tumors in the brain and spinal cord. Neurocutaneous disorders can also affect other organ systems, such as the eyes, kidneys, and heart. These disorders cause tumors that can be benign or malignant and often require medical or surgical intervention. Accurate diagnosis often involves a combination of clinical assessment and diagnostic testing.
Neurology Testing Descriptions and Turnaround Times
|Neurofibromatosis 1 (NF1)||NF1||2-3 weeks|
|Tuberous sclerosis complex (TSC)||TSC1,TSC2||2-3 weeks|
|Legius syndrome||SPRED1||2-3 weeks|
|von Hippel-Lindau (VHL) disease||VHL||1-3 weeks|
|Hereditary hemorrhagic telangiectasia (HHT)||ACVRL1, ENG, SMAD4, GDF2, RASA1||2-3 weeks|
|Ataxia-telangiectasia (AT)||ATM||2-3 weeks|
|Nevoid basal cell carcinoma (Gorlin syndrome)||PTCH1, SUFU||1-3 weeks|
|Li-Fraumeni syndrome||TP53||1-3 weeks|
|BrainTumorNext||AIP, ALK, APC, CDKN1B, CDKN2A, DICER1, MEN1, MLH1, MSH2, MSH6, NBN, NF1, NF2, PHOX2B, PMS2, POT1, PRKAR1A, PTCH1, PTEN, SMARCA4, SMARCB1, SMARCE1, SUFU, TP53, TSC1, TSC2, VHL||2-3 weeks|