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

DiseaseAB DUN ED GLA ServiceLong QT syndrome X KCNQ1, KCNH2, SCN5A , KCNE1,KCNE2 and other gene sequencesMarfan syndrome X Sequence analysis of FBN1MCAD X Sequence analysis of ACADM geneMedullary thyroid carcinoma X Sequence analysis of selected RETexonsMelanoma X Sequence analysis of selected KITexonsMelanoma X CDKN2A & CDK4 gene sequencingMitochondrial disorders (notLHON)Methylenetetrahydrofolatereductase deficiency(MTHFR)Multiple endocrine neoplasiatype 1Multiple endocrine neoplasiatype 2a/2bXXXXSequence analysis for commonpoint mutations.C677T mutationSequence analysis of MEN1 geneSequence analysis of selected RETexonsMYH-associated polyposis X X Common MYH mutations;sequence analysis of MYH geneMyotonic dystrophy type 1 X X X X Mutation testMyotonic dystrophy type 2 X Mutation testNephronophthisis (familialjuvenile)XCommon deletion NPH1Neurofibromatosis (NF1) X Microsatellite markersNeurofibromatosis (NF1) X Deletion screen by MLPANeurohypophyseal diabetesinsipidusOculopharyngeal musculardystrophy (OPMD)Ornithine transcarbamylasedeficiency (OTC)XXXAVP gene sequencingScreen for OPMD expansion;sequence analysis of 25 codonsOTC gene screenOvarian Cancer X BRCA 1 & 2, P53, PTEN genesequencing & MLPA.RAD51C & D gene sequencingPachyonychia congenita X Confirm identified mutationParkinson’s disease (earlyonset)Peeling skin syndrome(PSS)XXSequence analysis of PARK2 gene;screen for common LRRK2mutation; deletion testing by MLPASequence analysis of TGM5 genePelizaeus Merzbacher X Sequence analysis of PLP1 gene;dosage analysis by MLPA4