Övriga genetiska analyser, förmedl. prov/tolkning analysresultat (främst VGR)

CADASIL \ Leukoencefalopati \ Cerebral arteriopathi \ Cerebral autosomal dominant arteriopati \ Subkortikala infarkter \ Extraktion av DNA \ Extraktion av RNA \ NGS \ 4H syndrom \ Aarskogs syndrom \ FGD1 \ Acrodysostos \ PDE4D \ Adam-Oliver syndrom \ DOCK6 \ ARHGAP31 \ AOS \ Adrenoleukodystrofi \ ALD \ ABCD1 \ Agammaglobulinemi \ BTK \ Alagille \ JAG1 \ NOTCH2 \ GNAS \ HBB \ Alpha Thalasemia-retardation syndrome \ ALS \ SOD \ Alzheimers \ Aniridi \ PAX6 \ Aortapanel \ ARPKD \ PKHD1 \ Arrhythmogenic right ventricual cardiomyopathy \ ARVC \ PKP2 \ DSP \ DSG2 \ DSC2 \ RYR2 \ Arrytmi \ Arrythmia panel \ Cardiomyopathy \ Kardiomyopati \ Ataxi-Telangiekatsi \ Atypisk marfan \ EDS \ SMAD3-relaterad osteoartiritis \ FBN1 \ SMAD3 \ Autosomal dominant polycystic kidney disease \ ADPKD \ PKD1 \ PKD2 \ Autosomal recessive polycystic kidney disease \ AVPR2 \ Axenfeld-Rieger \ ARS \ Anterior segment dysgensis \ FOXC1 \ PITX2 \ Bardet-Biedl \ Barth syndrom \ TAZ \ BCKDHB CVS \ Benign familial neonatal convulsions/seizures \ SCN2A \ KCNQ2 \ KCNQ3 \ Benign hereditary chorea \ TITF1 \ NKX2-1 \ Benign Infantile Seizures \ BEST1 \ BHD \ FLCN \ Bilateral anophtalmia \ SOX2 \ Bindvävssjukdom \ TGFB2 \ Birt-Hogg-Dubé \ Blepharophimosis Ptosis Epicanthus Inversus \ Bohring-Optiz \ BPES \ FOXL2 \ Brown Vialetto van Laere \ Börjesson-Forssmann-Lehmann \ PHF6 \ CACNA1S \ SCN4A \ Periodic paralysis \ NOTCH3 \ CAH \ Carpenter \ CASK \ CASR \ Catecholaminergic polymorphic ventricular tachycardia \ CPVT \ CCM \ CCM2 \ PDCD10 \ Central core disease \ KRIT1 \ Malign hypertermi \ RYR1 \ Ceroid lipofuscinosis neuronal type 2 \ SPINK1 \ PRSS1 \ Charge \ CHD7 \ Choriodermi \ CHRNB1 \ CHRND \ CHRNE \ Chronic mucocutaneous candidiasis \ STAT1 \ AIRE \ CLCN1 \ Cloustens \ Cloustons syndrom \ Connexin 30 \ Coffin-Lowry \ RPS6KA3 \ COL7A1 \ Congenital adrenal hyperplasia type 1 \ CYP21A2 \ Congenital Central Hypoventilation syndrom \ PHOX2B \ Congenital indifference to pain \ SCN9A \ Cornelia de lange \ Currarino triad \ HLXB9 \ Zellweger \ CYP11B2 \ Cystinosis \ CTNS \ DFNA9 \ COCH \ Donohue \ INSR \ DRAVET \ GEFS \ SCN1A \ SCN1B \ GABRD \ Dravet-liknande \ Dravets syndrom \ Dysalbumenisk hyperthyroxinemi \ ALB \ DYT5 \ GCH1 \ Early infantile epileptic encephalopathy \ EIEE \ KCNT1 \ IKBKG \ Ectodermal dysplasia with immunodefiency \ NEMO \ Ehler Danlos \ Loey-Dietz \ MSUD \ MSUD enzymtest \ Epidermolysis bullos \ Dowling-Meara \ KRT14 \ KRT5 \ Epidermolytisk iktyos \ Keratin 10 \ Epilepsi \ Episodic Ataxia \ Episodisk ataxi \ CACNA1A \ CACNB4 \ KCNA1 \ SLC1A3 \ EXOSC3 \ FAAD \ TGFBR1 \ D4Z4 \ Familial Exudative vitreoretinopathy \ FEVR \ FZD4 \ LRP5 \ TSPAN12 \ ZNF408 \ Familial thoracal aorta aneurysmata \ FTAA1 \ ACTA2 \ TGFBR2 \ Familjär amyotrofisk lateral skleros \ Amyotrofisk lateral skleros \ SOD1 \ MYH7 \ Familjär intrahepatisk cholestas \ ATP8B1 \ ABCB11 \ Familjär lymfocytär histiocytos \ UNC13D \ Familjär medelhavsfeber \ MEFV \ Familjär thorakal aorta aneurysmata \ FTAA \ FASLG \ FHM \ Fibrodysplasia Ossificans Progressiva \ ACVR1 \ FMF \ Forskningsprov \ HSAN \ FRAXE syndrom \ FMR2 \ Friedreich ataxi \ FRDA \ FXN \ FSH \ Glukosylceramidas \ GBE1 \ GFAP \ Gitelmans syndrom \ CLCNKB \ SLC12A3 \ GLUT-1-defekt \ SLC2A1 \ Wolf-Hirschhorn \ Smith-Magenis \ Glykogenos, typ 3 \ Glykogenos \ Albright \ GNAS1 \ Goltz-Gorlin \ PORCN \ Gorlin syndrom \ PATCH \ GSD, typ III \ GSD \ AGL \ GSD, typ IX \ PHKA2 \ GSD1B \ HCM \ MYBPC3 \ HDAC8 \ HDLS \ CSF1R \ Hemofili A \ Hemophilia \ RB1 \ Hereditary Pancreatitis \ Hereditary sensory and autonomic neuropathy, type 2 \ HSAN2A \ HSAN2B \ HSAN2C \ Herpes-encefalit \ TLR3 \ UNC93B1 \ Hirschprung \ HJV \ Hamp \ TFR2 \ SLC40A1 \ Hjärtarrytmi \ HLH \ Holt-Oram \ TBX5 \ HSD11B2 \ Hunters sjukdom \ IDS \ Hyperlipoproteinemi \ HyperIgM \ CD40LG \ Hyperinsulinism \ ABCC8 \ KCNJ11 \ Hyperkalemisk periodisk paralys \ Hypertrof kardiomyopati \ Hyperthrophic cardiomyopathy \ MYH \ TCAP \ Hypofosfatem rakit \ PHEX \ Hypoglycaemic Hyper

Blod

4 ml EDTA-rör

4 ml EDTA-rör med blod
Om annat provmaterial än EDTA-blod önskas användas, kontakta Klinisk Genetik (031-3435770).

Rumstemperatur Centrifugeras ej

Rumstemperatur

Remiss genetisk analys

Övriga genetiska analyser, förmedl. prov/tolkning analysresultat (främst VGR)

Övriga genetiska analyser

Nej