Genotype-Phenotype Correlations
For Neurofibromatosis type 1, there are a handful of proven genotype-phenotype correlations, with some having more severe or mild presentations. The flyer below provides an overview of these different variants with their associated phenotypic characteristics.
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Next-Generation Sequencing vs RNA
The NF1-RASopathy NGS panel (RAS-NG)includes 18 genes (NF1, SPRED1, PPP1CB, PTPN11, BRAF, CBL, HRAS, KRAS, NRAS, MAP2K1, MAP2K2, LZTR1, RAF1, RIT1, RASA2, SHOC2, SOS1 and SOS2) implicated in RASopathy spectrum disorders, covers all the coding regions and ~50bp intronic sequences flanking all exons of the targeted genes. All regions carrying pathogenic NF1 mutations, as identified between 2003-2016 in the UAB cohort of 8,000 mutation-positive patients, and >65 deep intronic mutations are included. In addition, through deep coverage (average coverage 1,600x and >98% of the NF1 coding regions at >350x and 99% at >200x, allowing detection of very low-level mosaicism, down to 3-5% mutant allele fraction (regions covered by >350x and >200x respectively) with 95% confidence.
Below are important considerations when determining whether to utilize our NF1-RASopathy NGS panel or the RNA-based NF1 testing.
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Schwannomatosis/Meningiomatosis testing at UAB MGL
The UAB Medical Genomics Laboratory (MGL) is pleased to offer several custom-designed next generation sequencing panels for patients with a Schwannomatosis related phenotype. The Schwannomatosis NGS panel includes 3 genes (NF2, SMARCB1, LZTR1) and the Meningiomatosis panel includes 4 genes (NF2, SMARCB1, SMARCE1, SUFU). Each panel covers all of the coding regions and ~50bp intronic sequences flanking all exons of the targeted genes with deep coverage (average coverage >1500x with 99% of the coding region covered at ≥350x and 100% covered at ≥200x). This allows for detection of very low-level mosaicism by sequencing, as low as 3-5% of the alleles (regions covered by 350x and 200x respectively) with >95%confidence.
Below are important considerations when determining whether to utilize our Meningiomatosis or Schwannomatosis panel.
Click here to download a PDF version.
