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Gene Mutations List
Please click on sample count for catalog numbers and sample details.
Gene
Description
Location
Mutation
Sample Count
Diagnosis
CFTR
CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR
7q31.2
PHE508DEL
2
ASYMPTOMATIC OR UNDIAGNOSED AND GENETICALLY RELATED TO AN AFFECTED INDIVIDUAL
CFTR
CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR
7q31.2
PHE508DEL
1
TOURETTE SYNDROME
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