DNA-analys, konstitutionell

Analyserande laboratorium

Laboratoriemedicin
Klinisk Genetik
Norrlands Universitetssjukhus
901 85 Umeå

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DNA-analys-konstitutionell FAP familjär-amyloidos-med-polyneuropatia Skellefteåsjukan (Genetik, EDTA, konstitutionell, konstitionell, DNA-analys, molekylärgenetisk analys, genetisk analys, diagnostisk analys, anlagsbärarutredning, prediktiv analys, segregationsanalys, punktmutation, syndrom, mutation, gen, allel, sekvensering, SNP array, Telomerförlustsyndrom, Telomeras, Förkortad Telomerlängd, Aplastisk Anemi, Idiopatisk Lungfibros, Dyskeratosis Congenita, Familjär MDS, TERT, NGS, Next Generation Sequencing, genpanel, MPS, Massive Parallell Sequencing, exom, WES, Whole Exome Sequencing, helgenom, WGS, Whole Genome Sequencing, Adrenoleukodystrofi, Adrenomyeloneuropathy, ALD, ABCD1 , Angelman syndrom, Arytmogen högerkammardysplasi, högerkammarkardiomyopati, ARVC, ARVD, PKP2, Bests sjukdom, Vitelliform makulodystrofi 2, BMD, VMD2, Bestrophin, Retinitis pigmentosa, RP, Botnia retinaldystrofi, Västerbottensdystrofi, RLBP1, BRCA1, BRCA2, ärftlig bröstcancer, CADASIL, Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy, NOTCH3, Charcot-marie-tooth, CMT, CMT1A, Hereditär icke-polypos koloncancer, HNPCC, MLH1, MSH2, MSH6, PMS1, PMS2, Lynch syndrom, Cystisk fibros, CFTR, Dilaterd kardiomyopati, Dilated cardiomyopathy, DCM, DES, LMNA, TNNT2, TTN, Dystrofia myotonica, Epidermolysis Bullosa, JEB, Epidermolysis bullosa junctional, Herlitz typ, LAMA3, LAMB3, Facioscapulohumeral muskeldystrofi, FSHD, Facioscapulohumeral Muscular Dystrophy, Familjär Hyperkolesterolemi, LDLR, apoB 3500, PCSK-9,FAAD, TAD, Thorakal aortasjukdom, LDS,Loeys-Dietz syndrom, Ehlers Danlos syndrom typ IV, ACTA2, COL3A1, PKD2, TGFBR1, TGFBR2, FRAXA, Fragil X mental retardation, FMR1, Fragilt X syndrom, FRAX, Friedreich ataxi 1, FRDA, Gauchers sjukdom typ III, Juvenil neuronopatisk form, Norrlandsformen, GBA, Glukos-galaktomalabsorption, GGM, SLC5A1, Gorlin-Goltz syndrom,Nevoid basal cell carcinoma syndrome, PTCH, PTCH1, Linderholms sjukdom, ISCU, Vittangisjukan, NGF, NGFB, Huntingtons Chorea, Hypertrofisk kardiomyopati,Hypertrophic cardiomyopathy, HCM, FHC, MYBPC3, MYH7, ACTN2, MYL2, TNNI3, Catecholaminergic Polymorphic Ventricular Tachycardia, CPVT, RYR2, Kennedys sjukdom, SBMA, Spinal and bulbar muscular atrophy, spinobulbär muskelatrofi, Kort QT-syndrom, SQTS, KCNJ2, Lebers kongenitala amauros, Retinitis pigmentosa 12, RP12, LCA, CRB1, Limb-girdle muskeldystrofi typ 2I, CAPN3, QTS, LQT syndrom, Romano-Ward syndrom, Jervell och Lange-Nielsen syndrom, JLNS, Brugada syndrom, KCNQ1, KCNH2, SCN5A, KCNE1, KNCE2, Marfan syndrom, FBN1, MIRAS, Mitokondriellt recessivt ataxisyndrom, POLG-relaterad Ataxi och Neuropati, POLG1, POLG, Maturity-onset diabetes of the young, MODY1, MODY2, MODY3, GCK, HNF1A, HNF4A, MEN1, MEN1A, Thomsens sjukdom, Beckers myotoni, Kongenital myotoni, CLCN1, NS1, Noonan syndrom typ 1, Male Turner syndrom, PTPN11, Polycystisk njursjukdom, ADPKD, PKD2, PWS, Prader-Labhart-Willi syndrome, Pulmonell arteriell hypertension, PAH, HPAH, FPAH, PPH, CGH array, mental retardation, utvecklingsförsening, syndrom utredning, mikrodeletion, mikroduplikation, Spinocerebellär ataxi, SCA, SCA1, SCA2, SCA3, SCA6, SCA7, FAP, Familjär Amyloid Polyneuropati, Transtyretin, TTR, Skelleftesjukan, TTR-relaterad amyloidos, Tuberös scleros, TSC, TSC1, TSC2,HMSN1A, Hereditär motorisk sensorisk neuropati, HNPP, PMP22, LQTS, HCM, TERC, DKC1, TINF2 ABCA4, ABCC8,, ACTC1, ACVRL1, AKAP9, ALDH3A2, BAG3, BEST1, C1R, CACNA1A, CANT1, CASR, CBL, CDH23, CEP290, COA3, COL5A1, COL5A2, COL11A2, COMP, CPS1, CREBBP, CSRP3, CYP4V2, DSC2, DSG2, DSP, ENG, FBN2, FGFR3, GALC, GJB2, GLA, GREB1L, GUCY2D, HACE1, JAG1, JUP, KCNQ4, KIF23, KRAS, LDLRAP1, L1CAM, MFN2, MLH1,, MYO7A, NRAS, PDHB, PEX1, PIEZO2, PKP2, RBM20, RET, RUNX2, SCN1A, SCN4A, SNTA1, SOD1, SPAST, SPG11, SPINK5, STXBP1, SYNE1, TBX4, TGFB2, TGFB3, TMEM43, TOR1AIP1, TPM1, UNC13D, VCLmed flera ) Klinisk Genetik Fragila-X-syndromet FRAXA-syndrom FMR1-gen genetik utvecklingsstörning