Neurofibromatosis type 1 (NF1), von Recklinghausen disease
Analysis ID 220
Analysis location “GENESIS” Centre for Medical Genetics
Diagnosed illness Neurofibromatosis type 1 (NF1), von Recklinghausen disease
OMIM #162200
Clinical information Neurofibromatosis type 1 (NF1) is a condition typically characterized by changes in skin pigmentation. In addition, the tumors of peripheral nerves as well as central nervous system are frequent. Symptoms of this condition vary widely among the mutation carriers (some of them can even be asymptomatic). Most patients with NF1 show multiple café-au-lait spots, which increase in number and size as the individual gets older. Freckles in the armpits and groins typically develop later in childhood. Most adults with NF1 develop benign subcutaneous tumors called neurofibromas. In some cases peripheral nerve tumors are malignant and then are referred to as malignant peripheral nerve sheath tumors. Ocular findings in NF1 include Lisch nodules of the iris and optic glioma. Additional symptoms of NF1 may comprise hypertension, short stature, macrocephaly, and severe scoliosis.
Type of analysis Molecular
Type of biological material 5 ml of peripheral blood collected in an ETDA tube; DNA sample
Analyzed genes NF1
Analysis description Analysis consists of identification of large deletions or duplications involving the NF1 gene with use MLPA method
Analysis indication Symptoms of neurofibromatosis type 1
Analysis time Appointed individually
Refund Yes
CGM laboratory name Laboratory for Molecular Genetics