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Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation
The UAB Medical Genomics Lab Obtains California Licensure
Genotype-phenotype correlation in NF1 patients: evidence for a more severe phenotype associated with missense mutations affecting NF1 codons 844-848
The Medical Genomics Laboratory is pleased to offer new next generation sequencing testing options for NF1/SPRED1 and other Rasopathy related conditions.
UAB researchers work to unravel the complex genetic disease neurofibromatosis type 1
The Medical Genomics Laboratory recently published a genotype-phenotype correlation identified in a large cohort of patients carrying missense mutations affecting NF1 codon 1809.
The MGL is pleased to announce that we now offer testing for Tuberous Sclerosis Complex (TSC).
A new major gene, LZTR1, predisposing to schwannomatosis has been discovered using a sophisticated approach involving next-generation deep sequencing of evolutionary conserved sequences on chromosome 22q.