Neurocutaneous/Neuro-Oncology Disorders

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

Condition Name Gene(s) TAT
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