Service: Molecular Genetics Service Summary: Tests by site AB ...

DiseaseAB DUN ED GLA ServiceCPVT X RYR2 gene sequenceCrigler-Najjar syndrome X Sequence analysis of UGT1A1geneCystic fibrosis (CF) X X X X Common mutationsCystic fibrosis (CF) NewbornscreeningX5 mutation screenDeafness (GJB2, GJB6) X Sequence analysis of GJB2 geneincluding c.-23+1G>A mutation;testing for GJB6 deletionsDentatorubral-pallidolusianatrophy (DRPLA)Developmental delay X X X X Commonmicrodeletions/duplications &telomeresDi George syndrome (22q11del)XX X MicrodeletionsDilated cardiomyopathy X LMNA gene sequencingDuchenne/ Becker musculardystrophy (DMD/ BMD)XMLPA & Dystrophin genesequencingDystonia - torsion X X Testing for DYT1 deletion.Epidermolysis bullosasimplex (EBS)Epidermolytic palmoplantarkeratoderma (EPPK)XXSequence analysis of KRT5 andKRT14Sequence analysis of KRT1 andKRT9Factor V Leiden X X X Specific mutationFamilial adenomatouspolyposis (FAP)FamilialhypercholesterolaemiaFamilial juvenilenephronophthisisFibrodysplasia OssificansProgressiva (FOP)XXXXSequence APC and MYH; MLPA fordeletionsLDLR sequence & specificmutationsTest for homozygous deletionSpecific mutationFragile X X X X Mutation testFriedreichs ataxia X Mutation testGastrointestinal stromaltumours (GISTs)XSequence analysis of selectedexons of KIT and PDGFRA genes.Gilbert syndrome X Common mutation in UGT1promoterGRA (hyperaldosteronism)X2