Mutations in SPRED1 result in a Neurofibromatosis 1-like phenotype without the serious complications associated with NF. Patients with Neurofibromatosis 1-like phenotype usually present with multiple cafĂ©-au-lait spots, axillary freckling, and macrocephaly. A minority of the patients have dysmorphic features resembling Noonan syndrome. It is inherited in an autosomal dominant manner. This laboratory performs both Sanger sequencing of the SPRED1 gene as well as deletion/duplication by MLPA.
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Most cases are due to sequence variants. Therefore, sequencing should be ordered first. If sequencing is unrevealing, then deletion/duplication analysis may be considered.
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