A B C D E F G HI J K L M N O P R S T V U W X
Udover de anførte DNA-analyser, kan vi tilbyde at bekræfte mutationer fundet på udenlandske laboratorier, hvis dette er relevant for yderligere udredning af en familie.
Analysepriser
Laboratoriet medvirker løbende i et eksternt kvalitetssikring program for molekylærgenetiske analyser (EMQN) og har i 2010 deltaget for følgende analyser: CF, SMA, DM, DMD, PW/AS, FRDA, CAH, CMT, HD, HRF og FRAX.
A
Aicardi-Goutieres (RNASEH2B)Alfa-actin (ACTA1)Akondroplasi (FGFR3)Adenin nukleotid translocator 1 (ANT1)Addison DAX1 (NR0B1)Adrenogenitalt syndrom /21-hydroxylase mangel, (CYP21A2) Adrenoleukodystrofi (ABCD1)Alfa-1-antitrypsinmangel (SERPINA1)Alfa-sarcoglycan (SGCA)Alzheimer (PSEN1/PSEN2/APP)Androgenreceptormangel (AR)Angelman syndrom (15q11.2-q13)Apert syndrom (FGFR2) Arylsulfatase A (ARSA)
BBiotinidasemangel (BTD)BSCL2CCADASIL (NOTCH3)Calpainopati, LGMD2A (CAPN3)Campomel dysplasi, SOX9 defekt (SOX9)Caveolin (CAV3)Carnitine Palmitoyltransferase II (CPTII)CBAVDCDKL5Chitotriosidase (CHIT1)CINCA (CIAS1/NLRP3)Charcot-Marie-Tooth type 1A (PMP22)Charcot-Marie-Tooth type 1B (MPZ)Charcot-Marie-Tooth type 2A2 (MFN2)Charcot-Marie-Tooth (X-bunden, GJB1)Choroideremi (CHM) Congenital Disorders of Glycosylation type 1a, CDG1a (PMM2)
Congenit Centralt Hypoventilations Syndrom, CCHS (PHOX2B)Cystisk fibrose (CFTR)Cyclisk Neutropeni (ELA2 +HAX1)Crouzons syndrom (FGFR2)
DDeoxy-guanosinkinase (DGUOK)Duchennes / Beckers muskeldystrofi (DMD)Dystoni (DYT1, 5, og 11)Dystrophia Myotonica Type 1 (DMPK) Dystrophia Myotonica Type 2 (CNBP)Duncan sygdom, X-bunden (SH2D1A)
E
Kraniofrontonasal syndrom (EFNB1) Emery-Dreyfuss, autosomal dominant form (LMNA)Epidermolysis Bullosa (LAMB3)FFabry (Anderson-Fabry Disease, alpha-galactosidase A deficiency, GLA)Familiær middelhavsfeber (MEFV) Febersygdomme, recidiverende, ud over FMF (TRAPS; HIDS; Muckle Wells syndrome; CINCA).Fukutinrelateret protein, LGMD2I (FKRP) Fukuyama muskeldystrofi, Fukutin defekt (FKTN)Fragilt X (FMR1) Friedreich ataxi (FXN)Frontotemporal Demens (MAPT og PGRN)FXTAS (FMR1)GGalaktosæmi (GALT)Gamma-sarcoglycan (SGCG) Gaucher (GBA) GLUT1 defektGlutarsyreuri type I (GCDH) Glycogen Storage Disease I (G6PC)
HHereditær fruktose intolerance, HFI (ALDOB)Hibernian febersygdom (TNFRSF1A) HNPP (PMP22) Hæmofili A (F8) Hæmofili B (F9)Holocarboxylase syntetase defekt (HLCS)HomocystinuriHUMARA (AR) Hunter (IDS)Huntingtons chorea (HTT) Hyperkalæmisk periodisk paralyse, HYPP (SCN4A)Hypochondroplasi (FGFR3) I
J
KKarnitin-transporterdefekt, CTD (SLC22A5) Kennedys sygdom (AR) Krabbes sygdom (GALC) LLebers hereditære opticus neuropati (LHON)Limb-Girdle type 1B (LMNA)Limb-Girdle type 1C (CAV3)Limb-Girdle type 2A (CAPN3)Limb-Girdle type 2C (gamma-sarcoglycan)Limb-Girdle type 2D (alfa-sarcoglycan)Limb-Girdle type 2E (beta-sarcoglycan)Limb-Girdle type 2H (TRIM32)Limb-Girdle type 2I (FKRP)Limb-girdle type 2L (ANO5) - Anoctamin 5Limb-girdle type 2O (POMGNT1) - DystroglycanopatiLeigh syndrom (SURF1)
MMaternel tilblandingMarfans syndrom (FBN1)McArdle (PYGM)MECP2MEFVMELASMERRFMetakromatisk leukodystrofi (ARSA) Mevalonatkinasemangel (MVK)Mitokondriesygdomme udover LHONMitofusin (CMT2A2) MNGIE (TYMP)Muckle Wells Syndrom (MWS)Muenkes syndrom (FGFR3)
NNARPNeurofibromatose (NF2)Norrie (NDP) OOkular Albinisme (OA1) Okulopharyngeal muskeldystrofi (PABPN2)Ondine syndrom (PHOX2B)Osteogenesis Imperfecta (COL1A1+COL1A2)OTCase mangel
PPEO1POLG1POLG2POR (cytochrome p450 oxidoreduktase)Pompe's sygdom (GAA)POMT1Prader-Willi syndrom (15q11.2-q13)Primary failure of tooth eruption, (PTH1R)Polycystisk nyresygdom, adult form (PKD1, PKD2)Pyruvat dehydrogenase mangel (PDHA1)RRett syndrom (MECP2) Retinoschisis (RS1)SSaethre-Chotzen (TWIST1)Spinal muskelatrofi (SMA type I, II og III)Spinocerebellar Ataxi (SCA1,2,3 6, 17 og DRPLA)SHOX defektSOX9SRY defektSTARSURF1 (Leigh syndrom)SUCLA2SUCLG1Sotos syndrom (er udgået af vores analyse tilbud)TThanatophor dværgvækst (FGFR3) Thomsens/Beckers myotoni (CLCN1)Thymidin phosphorylase (ECGF1)Thymidin Kinase (TK2)Tuberøs sclerose (TSC1)TRAPS (TNFRSF1A)Trombocytopeni, X-bundet form (WAS) Tropomyosin 2 (TPM2)Tropomyosin 3 (TPM3)Tyrosinæmi type 1 (FAH)Twinkle (C10ORF2)
U Uniparental disomi
V
WWiskott Aldrich syndrom (WAS)
X X-bunden mental retardering; MECP2, CDKL5 X-koblet binyrebarkinsufficiens (NR0B1)X-kromosominaktivering (AR) ZZellweger spektrum sygdom (PEX1)