GENOME TEST
Genetikai vizsgálat több ezer öröklött betegségre.
A szokásos panelek előre kiválasztott géncsoportot vizsgálnak. A Genome Test a teljes DNS-t olvassa be, így több ezer, ismert genetikai hátterű betegségre kapunk több adatot.
Betegségi jelentések
Cancer
Diseases characterized by the uncontrolled growth and spread of abnormal cells; also known as oncological conditions.
View 33 condition reports →Cardiovascular
Conditions involving the heart, blood vessels (arteries, veins), and the body's circulatory system.
View 26 condition reports →Dermatological
Conditions affecting the skin, hair, nails, and their associated glands.
View 18 condition reports →Endocrine
Disorders of the glands that produce hormones, which regulate metabolism, growth, mood, and development.
View 23 condition reports →Gastrointestinal
Conditions related to the digestive system, including the oesophagus, stomach, intestines, liver, and pancreas.
View 15 condition reports →Hematological
Conditions affecting the blood, blood-forming organs (like bone marrow), and blood components such as cells and plasma.
View 25 condition reports →Immunological
Disorders of the immune system, including allergies, autoimmune diseases, and immunodeficiencies.
View 34 condition reports →Metabolic
Conditions impacting the body's chemical processes for converting food into energy, building tissues, and eliminating waste.
View 67 condition reports →Musculoskeletal
Disorders involving the bones, joints, ligaments, tendons, and muscles, affecting movement and the body's structure.
View 31 condition reports →Neurological
Conditions affecting the brain, spinal cord, and the network of nerves that control the body.
View 59 condition reports →Nutrition
Issues related to diet, dietary intake, and the body's ability to absorb and utilize nutrients.
View 6 condition reports →Ophthalmological
Conditions affecting the eyes, vision, and related structures.
View 21 condition reports →Oral
A broader category than dental, including conditions of the entire mouth, such as the tongue, salivary glands, and inner lining (mucosa).
View 6 condition reports →Other
Miscellaneous conditions that do not fit into other classifications.
View 5 condition reports →Otolaryngological
Conditions related to the ear, nose, and throat.
View 6 condition reports →Psychiatric
Disorders affecting mental health, mood, behaviour, and emotional well-being.
View 4 condition reports →Respiratory
Conditions involving the lungs, airways (trachea, bronchi), and the mechanics of breathing.
View 10 condition reports →Sexual Health
Issues related to reproductive health, sexual function, and sexually transmitted infections (STIs).
View 8 condition reports →Sleep
Disorders that affect the quality, timing, and amount of sleep, impacting overall health.
View 1 condition report →Toxicology
Conditions resulting from exposure to poisons, toxins, drugs, or other harmful chemical substances.
View 4 condition reports →Urological
Disorders related to the kidneys and prostate, their function, and the overall urinary system.
View 21 condition reports →Kockázati pontszámok
Brain & nervous system
Genetic predisposition to neurological conditions such as dementia and migraine.
View 2 risk scores →Cancer
Diseases characterized by the uncontrolled growth and spread of abnormal cells; also known as oncological conditions.
View 7 risk scores →Heart & circulation
Genetic predisposition to heart disease, stroke, blood clots and the blood markers behind them.
View 9 risk scores →Immune & inflammatory
Genetic predisposition to autoimmune, allergic and inflammatory conditions.
View 5 risk scores →Lifestyle & traits
Genetic influences on everyday traits such as sleep, coffee, vitamin D and skin.
View 6 risk scores →Longevity & ageing
Genetic influences on lifespan and on conditions that become more common with age.
View 7 risk scores →Mental health & wellbeing
Genetic predisposition to common mental health conditions and aspects of wellbeing.
View 8 risk scores →Metabolism & body
Genetic influences on blood sugar, body size and metabolic health.
View 5 risk scores →NEM TUDJA, HOL KEZDJE?
Ha megmagyarázhatatlan tünetei vannak, és nincs diagnózisa, a teljes genom szekvenálás olyan válaszokat adhat, ahol más vizsgálatok nem tudtak.
GÉNT KERESSEL?
Minden gén, amelyet ezek a jelentések vizsgálnak, A-tól Z-ig, mindegyik azokkal a betegségekkel együtt, amelyekhez kapcsolódik.
Betegségi jelentések
Cancer
Diseases characterized by the uncontrolled growth and spread of abnormal cells; also known as oncological conditions.
Genome Test megrendelése →Condition reports in this category(33)
- BAP1 Tumour Predisposition SyndromeBAP1 · 1 condition
- Birt-Hogg-Dubé SyndromeFLCN · 2 conditions
- Breast and Ovarian Cancer Genes Beyond BRCA1/2ATM, BARD1, BRIP1, CDH1, CHEK2, CTNNA1 +3 · 9 conditions
- CYLD Cutaneous SyndromeCYLD · 1 condition
- Colorectal Cancer & PolyposisAPC, AXIN2, MSH3, MUTYH, NTHL1, POLD1 +1 · 8 conditions
- Cowden Syndrome (PTEN hamartoma tumour syndrome)AKT1, PTEN · 10 conditions
- DICER1 Tumour PredispositionDICER1 · 1 condition
- DNA Repair DiseaseAPTX, BRCA1, BRCA2, BRIP1, COA7, DCLRE1C +37 · 1 condition
- Hereditary Breast and Ovarian Cancer (BRCA1/2)BRCA1, BRCA2 · 3 conditions
- Hereditary Diffuse Gastric CancerCDH1, CTNNA1 · 3 conditions
- Hereditary Leiomyomatosis and Renal Cell CancerFH · 1 condition
- Hereditary Pheochromocytoma and ParagangliomaEGLN1, MAX, RET, SDHA, SDHAF2, SDHB +4 · 4 conditions
- Hereditary Prostate CancerHOXB13 · 1 condition
- Hereditary RetinoblastomaRB1 · 1 condition
- Hereditary Wilms TumourREST, WT1 · 1 condition
- Inherited Predisposition to Myeloid Blood CancersDDX41, GATA2, SAMD9, SAMD9L · 5 conditions
- Juvenile Polyposis SyndromeBMPR1A, SMAD4 · 2 conditions
- Li-Fraumeni SyndromeTP53 · 1 condition
- Lung CancerDICER1, EGFR · 1 condition
- Lynch SyndromeEPCAM, MLH1, MSH2, MSH6, PMS2 · 2 conditions
- Malignant Endocrine NeoplasmCDC73, CDKN1B, MEN1, RET, SDHA, SDHAF2 +2 · 3 conditions
- MedulloblastomaELP1, GPR161, SUFU · 2 conditions
- MelanomaCDK4, CDKN2A, MITF, POT1 · 3 conditions
- Mosaic Variegated Aneuploidy SyndromeBUB1B, CEP57, SLF2, SMC5, TRIP13 · 1 condition
- Neuroblastoma Predisposition (ALK and PHOX2B)ALK, PHOX2B · 2 conditions
- Nevoid Basal Cell Carcinoma (Gorlin) SyndromePTCH1, SUFU · 1 condition
- PALB2 related diseasesPALB2 · 3 conditions
- Peutz-Jeghers SyndromeSTK11 · 1 condition
- Rhabdoid Tumour and SWI/SNF Tumour PredispositionSMARCA4, SMARCB1, SMARCE1 · 2 conditions
- Rothmund-Thomson SyndromeANAPC1, CRIPT, RECQL4 · 1 condition
- Thyroid CancerAIRE, ALB, CASR, CDC73, DUOX2, DUOXA2 +25 · 62 conditions
- Uterine Fibroids2 conditions
- Von Hippel-Lindau DiseaseVHL · 1 condition
Betegségi jelentések
Cardiovascular
Conditions involving the heart, blood vessels (arteries, veins), and the body's circulatory system.
Genome Test megrendelése →Condition reports in this category(26)
- Aortic AneurysmACTA2, ARIH1, FBN1, FOXE3, LOX, MFAP5 +7 · 4 conditions
- Arrhythmogenic CardiomyopathyCDH2, DES, DSC2, DSG2, DSP, JUP +5 · 4 conditions
- Brugada SyndromeSCN5A · 1 condition
- Catecholaminergic Polymorphic Ventricular TachycardiaCALM1, CALM2, CALM3, CASQ2, RYR2, TECRL +1 · 2 conditions
- Dilated CardiomyopathyABCC9, ACTC1, BAG3, BAG5, DES, DMD +44 · 1 condition
- Familial Atrial FibrillationGJA5, KCNJ2, KCNQ1, MYL4 · 1 condition
- Hereditary Arterial CalcificationABCC6, ENPP1, NT5E · 2 conditions
- Hereditary Hemorrhagic TelangiectasiaACVRL1, ENG, GDF2, SMAD4 · 8 conditions
- Hereditary Vascular MalformationsEPHB4, GLMN, RASA1, TEK · 4 conditions
- Heritable Pulmonary Arterial Hypertension (HPAH)ATP13A3, BMPR2, CAV1, EIF2AK4, KCNK3, SMAD9 · 3 conditions
- Heterotaxy & Laterality DefectsACVR2B, CFAP53, CFC1, CIROP, DAW1, GDF1 +5 · 2 conditions
- Hypertrophic CardiomyopathyACADVL, ACTC1, ALPK3, BRAF, CDKN1C, CSRP3 +56 · 1 condition
- Inherited Congenital Heart DefectsACTC1, ELN, FLNA, GATA4, GATA6, MYH6 +7 · 11 conditions
- Left Ventricular NoncompactionACTC1, LDB3, MIPEP, MYBPC3, MYH7, TNNT2 +1 · 2 conditions
- Loeys-Dietz SyndromeSMAD2, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2 · 3 conditions
- Long QT SyndromeCACNA1C, CALM1, CALM2, CALM3, KCNE1, KCNH2 +4 · 1 condition
- Monogenic Hypertension & Mineralocorticoid DisordersCACNA1D, CACNA1H, CUL3, CYP11B1, CYP11B2, HSD11B2 +9 · 7 conditions
- Moyamoya DiseaseACTA2, GUCY1A1, RNF213, SAMHD1 · 1 condition
- Noonan SyndromeBRAF, CBL, ERF, HRAS, KRAS, LZTR1 +16 · 3 conditions
- Primary Lymphoedema & Lymphatic MalformationsADAMTS3, ANGPT2, CCBE1, CELSR1, EPHB4, FAT4 +10 · 17 conditions
- Progressive Cardiac Conduction Disease & Sick Sinus SyndromeCACNA1D, DES, HCN4, LMNA, POPDC2, SCN5A +2 · 7 conditions
- Restrictive CardiomyopathyTNNI3, TNNT2 · 5 conditions
- Short Qt SyndromeKCNH2, KCNJ2, KCNQ1, SLC4A3 · 1 condition
- Syndromic and Metabolic CardiomyopathiesACTN2, AGK, CAMK2D, NKX2-5, PRKAG2, SLC25A4 · 7 conditions
- Tetralogy of FallotKDR, NKX2-5, ZFPM2 · 1 condition
- ThrombophiliaF2, F5, F9, HRG, PROC, PROS1 +3 · 2 conditions
Betegségi jelentések
Dermatological
Conditions affecting the skin, hair, nails, and their associated glands.
Genome Test megrendelése →Condition reports in this category(18)
- Cutis LaxaALDH18A1, ATP6V0A2, ATP6V1A, ATP6V1E1, ATP7A, EFEMP1 +10 · 1 condition
- Darier and Hailey-Hailey DiseaseATP2A2, ATP2C1 · 3 conditions
- Dyschromatosis Symmetrica HereditariaADAR · 1 condition
- Dyskeratosis CongenitaACD, CDCA7, CTC1, DCLRE1B, DKC1, DNMT3B +17 · 2 conditions
- Ectodermal DysplasiasCST6, EDA, EDAR, EDARADD, GJB6, HOXC13 +12 · 16 conditions
- Ellis-van Creveld Syndrome and Cranioectodermal DysplasiaEVC, EVC2, IFT122, IFT43, IFT52, WDR19 +1 · 3 conditions
- Epidermolysis BullosaCD151, COL17A1, COL7A1, DSP, DST, EXPH5 +13 · 8 conditions
- Familial Hidradenitis SuppurativaNCSTN, PSENEN · 1 condition
- Fibrodysplasia Ossificans ProgressivaACVR1, GNAS · 2 conditions
- Griscelli SyndromeMLPH, MYO5A, RAB27A · 1 condition
- Hereditary Hypotrichosis, Woolly Hair and MonilethrixAPCDD1, C3orf52, CDH3, CDSN, DSG4, HR +10 · 7 conditions
- Hereditary Palmoplantar Keratodermas and Pachyonychia CongenitaAAGAB, AP1B1, AQP5, CTSC, DSG1, DSP +29 · 1 condition
- Ichthyosis VulgarisFLG · 1 condition
- Inherited IchthyosesABCA12, ALOX12B, ALOXE3, CDSN, CERS3, CLDN1 +18 · 9 conditions
- Lipoid ProteinosisECM1 · 1 condition
- PorokeratosisFDPS, MVD, MVK, PMVK · 1 condition
- Pseudoxanthoma ElasticumABCC6, GGCX · 2 conditions
- Tylosis with Oesophageal CancerRHBDF2 · 1 condition
Betegségi jelentések
Endocrine
Disorders of the glands that produce hormones, which regulate metabolism, growth, mood, and development.
Genome Test megrendelése →Condition reports in this category(23)
- Autoimmune Polyendocrine Syndrome Type 1 (APECED)AIRE · 1 condition
- Carney Complex & Hereditary Adrenal Cushing SyndromeARMC5, PDE11A, PDE8B, PRKAR1A · 3 conditions
- Congenital Adrenal HyperplasiaCYP11A1, CYP11B1, CYP17A1, CYP21A2, HSD3B2, POR +1 · 3 conditions
- Congenital HypothyroidismDUOX2, DUOXA2, FOXE1, IGSF1, IRS4, IYD +14 · 3 conditions
- Familial Glucocorticoid DeficiencyAAAS, MC2R, MRAP, NDC1, NNT, NR0B1 +2 · 4 conditions
- Familial Isolated Pituitary Adenoma (FIPA / X-LAG)AIP, GPR101 · 2 conditions
- Graves Disease5 conditions
- Growth Hormone Insensitivity & IGF-1 Axis DisordersGHR, GHSR, IGF1, IGF1R, IGFALS, STAT5B · 2 conditions
- HyperinsulinismABCC8, FOXA2, GCK, GLUD1, HADH, HK1 +5 · 6 conditions
- HyperthyroidismALB, THRB, TSHR · 1 condition
- Hypogonadotropic HypogonadismANOS1, ARHGAP35, CHD7, CPE, DCAF17, FEZF1 +45 · 2 conditions
- Inherited Parathyroid & Calcium-Sensing DisordersAP2S1, CASR, CDC73, GATA3, GCM2, GNA11 +1 · 6 conditions
- Maturity-Onset Diabetes Of The YoungABCC8, APPL1, CEL, GCK, HNF1A, HNF1B +6 · 1 condition
- Monogenic Obesity (Leptin-Melanocortin Pathway)CEP19, LEP, LEPR, MC4R, PCSK1, POMC +1 · 1 condition
- Monogenic Precocious PubertyDLK1, LHCGR, MKRN3 · 2 conditions
- Neonatal Diabetes MellitusABCC8, BSCL2, EIF2B1, GATA4, GATA6, GCK +14 · 1 condition
- Non-Acquired Combined Pituitary Hormone DeficiencyCDON, CNOT1, DISP1, FOXA2, GH1, GHRHR +20 · 2 conditions
- Pendred SyndromeSLC26A4 · 2 conditions
- Polycystic Ovary SyndromeFSHR · 2 conditions
- Pseudohypoparathyroidism & GNAS-Inactivation DisordersGNAS, PDE4D, PRKAR1A, STX16 · 3 conditions
- Severe Inherited Insulin ResistanceAKT2, INSR · 4 conditions
- Thyroid Hormone Resistance, Transport & Metabolism DefectsSECISBP2, SLC16A2, THRB · 4 conditions
- Wolfram Syndrome & WFS1 SpectrumCISD2, WFS1 · 2 conditions
Betegségi jelentések
Gastrointestinal
Conditions related to the digestive system, including the oesophagus, stomach, intestines, liver, and pancreas.
Genome Test megrendelése →Condition reports in this category(15)
- Alagille SyndromeJAG1, NOTCH2 · 1 condition
- CHAPLE Disease (CD55 Deficiency)CD55 · 1 condition
- Congenital Diarrhoeas & EnteropathiesDGAT1, EPCAM, GUCY2C, MYO5B, NEUROG3, PLVAP +7 · 3 conditions
- Congenital Disaccharidase DeficienciesLCT, SI · 2 conditions
- Congenital Intestinal Atresia & Short BowelCLMP, TTC7A · 2 conditions
- Crohn's Disease1 condition
- Familial Intrahepatic CholestasisABCB11, ABCB4, ATP8B1, KIF12, MYO5B, NR1H4 +4 · 1 condition
- Hereditary Visceral Myopathy, CIPO & MMIHSACTG2, ERBB3, FLNA, MYH11, MYL9, MYLK · 4 conditions
- Hirschsprung Disease & Related Enteric NeurocristopathiesKIFBP, PHOX2B, RET · 4 conditions
- Inflammatory Bowel Diseases (IBD)ADAM17, EGFR, IL10, IL10RA, IL10RB, TGFB1 · 3 conditions
- Low phospholipid-associated cholelithiasisABCB4 · 5 conditions
- PancreatitisCPA1, CTRC, PRSS1, SPINK1, TRPV6 · 1 condition
- Polycystic Liver Disease (1 and 2)ALG8, LRP5, PRKCSH, SEC63 · 4 conditions
- Ulcer Disease18 conditions
- Ulcerative Colitis1 condition
Betegségi jelentések
Hematological
Conditions affecting the blood, blood-forming organs (like bone marrow), and blood components such as cells and plasma.
Genome Test megrendelése →Condition reports in this category(25)
- Congenital AfibrinogenemiaFGA, FGB, FGG · 1 condition
- Congenital Dyserythropoietic AnaemiasCDAN1, CDIN1, KLF1, SEC23B · 1 condition
- Congenital Thrombotic Thrombocytopenic PurpuraADAMTS13 · 1 condition
- Diamond-Blackfan AnemiaGATA1, HEATR3, RPL11, RPL15, RPL26, RPL35A +8 · 1 condition
- Fanconi AnemiaBRCA1, BRCA2, BRIP1, ERCC4, FANCA, FANCB +12 · 1 condition
- G6PD DeficiencyG6PD · 1 condition
- HaemophiliaF11, F8, F9 · 1 condition
- Hereditary Methaemoglobinaemia and Unstable HaemoglobinsCYB5A, CYB5R3, HBA1, HBA2, HBB · 3 conditions
- Hereditary Sideroblastic AnaemiasABCB7, ALAS2, GLRX5, HSPA9, PUS1, SLC25A38 +2 · 1 condition
- Hereditary SpherocytosisANK1, EPB42, SLC4A1, SLC4A2, SPTA1, SPTB · 1 condition
- Hereditary Von Willebrand DiseaseGP1BA, VWF · 1 condition
- Inherited Fibrinolytic DisordersPLAU, PLG, SERPINE1, SERPINF2 · 4 conditions
- Inherited Iron Metabolism DisordersCP, SLC11A2, TF, TMPRSS6 · 4 conditions
- Inherited Platelet Function DisordersGP1BA, GP1BB, GP6, GP9, ITGA2B, ITGB3 +3 · 6 conditions
- Inherited ThrombocytopeniasACTB, ACTN1, ADAMTS13, ANKRD26, ARPC1B, CDC42 +28 · 2 conditions
- PolycythemiaEGLN1, EPAS1, EPO, EPOR, HBA1, HBA2 +2 · 8 conditions
- Pyruvate Kinase Deficiency and Other Red Cell Enzyme DisordersAK1, GCLC, GPI, GSR, HK1, NT5C3A +2 · 8 conditions
- Rare Inherited Bone Marrow Failure SyndromesADH5, DNAJC21, ERCC6L2, MECOM, MYSM1, SRP72 · 2 conditions
- Rare Inherited Coagulation Factor DeficienciesF10, F13A1, F13B, F2, F5, F7 +4 · 5 conditions
- Rare Inherited Megaloblastic AnaemiasDHFR, UMPS · 2 conditions
- Red Blood Cell Membrane DisordersEPB41, KCNN4, PIEZO1, RHAG, RHCE, SLC4A1 +2 · 4 conditions
- Severe Congenital NeutropeniaCLPB, CSF3R, CXCR2, CXCR4, ELANE, G6PC3 +6 · 3 conditions
- Shwachman-Diamond SyndromeEFL1, SBDS · 1 condition
- Sickle Cell DiseaseHBB · 5 conditions
- ThalassaemiaHBA1, HBA2, HBB, HBG1, HBG2 · 2 conditions
Betegségi jelentések
Immunological
Disorders of the immune system, including allergies, autoimmune diseases, and immunodeficiencies.
Genome Test megrendelése →Condition reports in this category(34)
- Activated PI3K-Delta Syndrome (APDS)PIK3CD, PIK3R1 · 1 condition
- Agammaglobulinaemia (XLA and Autosomal Forms)BLNK, BTK, CD79A, CD79B, IGHM, IGLL1 +4 · 4 conditions
- Ataxia-TelangiectasiaATM · 1 condition
- Autoimmune DiseaseAIRE, ATP2C1, C1QA, CASP10, CASP8, CBLB +15 · 7 conditions
- Autoimmune Lymphoproliferative Syndrome (ALPS)CASP10, CASP8, CTLA4, FAS, FASLG, KRAS +1 · 1 condition
- Chediak-Higashi syndromeLYST · 1 condition
- Chronic Granulomatous DiseaseCYBA, CYBB, CYBC1, NCF1, NCF2, NCF4 · 9 conditions
- Chronic Mucocutaneous CandidiasisCARD9, IL17RA, IL17RC, STAT1, TRAF3IP2 · 2 conditions
- Common Variable Immunodeficiency (Monogenic CVID)CD19, CR2, ICOS, IKZF1, IRF2BP2, LRBA +4 · 1 condition
- Deficiency of Adenosine Deaminase 2 (DADA2)ADA2 · 1 condition
- EBV-Driven Lymphoproliferation and CARD11 Immune DysregulationCARD11, CD27, IKZF2 · 3 conditions
- Familial Hemophagocytic LymphohistiocytosisPRF1, STX11, STXBP2, UNC13D · 4 conditions
- Familial Isolated Congenital AspleniaRPSA · 1 condition
- Familial Mediterranean FeverMEFV · 1 condition
- Hepatic Veno-Occlusive Disease with Immunodeficiency (VODI)SP110 · 1 condition
- Hereditary AngioedemaF12, PLG, SERPING1 · 2 conditions
- Hereditary Periodic Fever SyndromesMVK, NLRC4, NLRP12, NLRP3, PLCG2, TNFRSF1A · 3 conditions
- Hyper-IgE SyndromeDOCK8, IL6R, IL6ST, SPINK5, STAT3, STAT6 +1 · 1 condition
- Hyper-IgM SyndromesAICDA, CD40, CD40LG, UNG · 1 condition
- IPEX Syndrome and Other TregopathiesBACH2, CTLA4, DEF6, FOXP3, IL2RA, IL2RB +1 · 7 conditions
- Immuno-Osseous DysplasiasRMRP, RNU4ATAC, SMARCAL1 · 2 conditions
- Inherited Complement and Properdin DeficienciesC1QA, C1QB, C1QC, C1S, C2, C3 +11 · 6 conditions
- Leukocyte Adhesion DeficiencyFERMT3, ITGB2, SLC35C1 · 1 condition
- Mendelian Susceptibility to Mycobacterial Disease (MSMD)IFNGR1, IFNGR2, IL12B, IL12RB1, IL23R, IRF8 +4 · 5 conditions
- Other Inborn Errors of ImmunityADA, ADAR, AICDA, AK2, AP3B1, ARPC1B +209 · 2 conditions
- Rare Monogenic Autoinflammatory DiseasesACP5, ADA2, ADAR, COPA, DOCK11, ELF4 +28 · 13 conditions
- STAT1 and STAT3 Gain-of-Function DiseaseSTAT1, STAT3 · 2 conditions
- Severe Combined ImmunodeficiencyADA, AK2, BCL11B, CARD11, CARMIL2, CD247 +26 · 2 conditions
- Sjogren Syndrome1 condition
- Systemic Lupus ErythematosusC1QA, DNASE1L3, PRKCD, SAT1, TREX1, UNC93B1 · 1 condition
- Type I InterferonopathiesACP5, COPA, IFIH1, POLA1, POMP, PSMB10 +6 · 10 conditions
- Wiskott-Aldrich Syndrome SpectrumWAS, WIPF1 · 3 conditions
- X-Linked Lymphoproliferative Disease and XMENMAGT1, SH2D1A, XIAP · 2 conditions
- X-linked Autoinflammatory DiseaseIKBKG · 1 condition
Betegségi jelentések
Metabolic
Conditions impacting the body's chemical processes for converting food into energy, building tissues, and eliminating waste.
Genome Test megrendelése →Condition reports in this category(67)
- Acid Sphingomyelinase Deficiency (Niemann-Pick Disease Types A and B)SMPD1 · 3 conditions
- AlkaptonuriaHGD · 1 condition
- Alpha-Mannosidosis and Other GlycoproteinosesAGA, CTSA, FUCA1, MAN2B1, MANBA, NAGA +1 · 7 conditions
- BH4 Deficiency & Monoamine Neurotransmitter DisordersDBH, DDC, DNAJC12, GCH1, MAOA, PCBD1 +5 · 4 conditions
- Beta-ureidopropionase deficiencyUPB1 · 1 condition
- Biotinidase & Holocarboxylase DeficiencyBTD, HLCS · 1 condition
- Cerebral Creatine Deficiency SyndromesGAMT, GATM, SLC6A8 · 1 condition
- CitrullinemiaASS1, SLC25A13 · 1 condition
- Classic Organic AciduriasACAT1, GCDH, HMGCL, IVD, MCCC1, MCCC2 +1 · 6 conditions
- Congenital Disorders of GlycosylationA4GALT, ALG1, ALG11, ALG12, ALG13, ALG14 +93 · 14 conditions
- CystinosisCTNS · 1 condition
- Danon DiseaseLAMP2 · 1 condition
- Diabetes MellitusABCC8, AKT2, APPL1, BSCL2, CEL, EIF2B1 +25 · 1 condition
- Disorder of Copper MetabolismAP1S1, ATP7A, ATP7B · 1 condition
- Disorders of Glycine & Serine MetabolismAMT, GCSH, GLDC, PHGDH, PSAT1, PSPH +2 · 2 conditions
- Fabry DiseaseGLA · 1 condition
- Familial HypercholesterolemiaAPOB, LDLR, LDLRAP1, PCSK9 · 1 condition
- Fatty Acid Oxidation & Carnitine Cycle DisordersACAD9, ACADM, ACADS, ACADVL, CPT1A, CPT2 +10 · 4 conditions
- GM1 Gangliosidosis and Morquio B SyndromeGLB1 · 2 conditions
- GPI Anchor Biosynthesis DefectsGPAA1, PGAP2, PGAP3, PIGA, PIGB, PIGC +14 · 6 conditions
- GalactosemiaGALE, GALK1, GALM, GALT · 1 condition
- Gaucher DiseaseGBA1 · 1 condition
- Gilbert SyndromeABCC2, UGT1A1 · 3 conditions
- Glutathione Synthetase DeficiencyGSS · 2 conditions
- Glycogen Storage DiseaseAGL, ENO3, G6PC1, GBE1, GYS1, GYS2 +9 · 13 conditions
- HemochromatosisCYBRD1, HAMP, HFE, HJV, SLC40A1, TFR2 · 1 condition
- Hepatic Porphyria DisordersALAD, ALAS2, CLPX, CPOX, FECH, HMBS +2 · 1 condition
- Hereditary AmyloidosisAPOA1, APOA4, APP, B2M, CST3, FGA +6 · 1 condition
- Hereditary Fructose Intolerance & Gluconeogenesis DefectsALDOB, FBP1, PCK1 · 3 conditions
- Hereditary HypolipoproteinemiasABCA1, ANGPTL3, APOA1, APOB, LCAT, MTTP +1 · 2 conditions
- Hermansky-Pudlak SyndromeAP3B1, AP3D1, BLOC1S3, BLOC1S5, BLOC1S6, DTNBP1 +5 · 1 condition
- Homocystinuria & Cobalamin DisordersABCD4, AHCY, AMN, CBLIF, CBS, CD320 +14 · 5 conditions
- Hypercalcemia InfantileCYP24A1, SLC34A1 · 1 condition
- HyperlipidemiaABCG5, ABCG8, APOA5, APOB, APOC2, APOE +7 · 2 conditions
- HypertriglyceridemiaAPOA5, CREB3L3 · 1 condition
- HypophosphatasiaALPL · 1 condition
- LipodystrophyAGPAT2, AKT2, BSCL2, CAV1, CAVIN1, LIPE +6 · 9 conditions
- Lysosomal Acid Lipase Deficiency (Wolman Disease and CESD)LIPA · 1 condition
- Lysosomal Storage DiseaseABHD5, AGA, AP5Z1, ARSA, ARSB, ARSK +53 · 1 condition
- Maple Syrup Urine DiseaseBCKDHA, BCKDHB, DBT, DLD · 1 condition
- McArdle's diseasePYGM · 1 condition
- Methylmalonic & Propionic AcidemiaABCD4, ACSF3, CD320, HCFC1, LMBRD1, MCEE +8 · 2 conditions
- Mucolipidoses (ML II, ML III and ML IV)GNPTAB, GNPTG, MCOLN1 · 3 conditions
- Mucopolysaccharidosis Type I (Hurler and Scheie Syndromes)IDUA · 1 condition
- Mucopolysaccharidosis Type II (Hunter Syndrome)IDS · 1 condition
- Mucopolysaccharidosis Type III (Sanfilippo Syndrome)GNS, HGSNAT, NAGLU, SGSH · 1 condition
- Mucopolysaccharidosis Type IVA (Morquio A Syndrome)GALNS · 1 condition
- Mucopolysaccharidosis Type VI (Maroteaux-Lamy Syndrome)ARSB · 1 condition
- Mucopolysaccharidosis Type VII (Sly Syndrome)GUSB · 1 condition
- Myalgic Encephalomyelitis / Chronic Fatigue Syndrome1 condition
- Niemann-Pick Disease Type CNPC1, NPC2 · 1 condition
- Peroxisomal Enzyme Disorders & Refsum DiseaseACOX1, AGPS, AMACR, GNPAT, HSD17B4, PHYH · 6 conditions
- Phenylketonuria (PKU)PAH · 1 condition
- Pompe DiseaseGAA · 1 condition
- PorphyriaALAD, ALAS2, CLPX, CPOX, FECH, HMBS +3 · 1 condition
- Primary HyperoxaluriaAGXT, GRHPR, HOGA1 · 2 conditions
- Primary Mitochondrial DiseaseAARS2, ACAD9, AFG3L2, AGK, AIFM1, ATP5F1A +131 · 9 conditions
- Purine & Pyrimidine Metabolism DisordersADSL, APRT, DPYD, DPYS, HPRT1, MOCOS +2 · 7 conditions
- Pyruvate Dehydrogenase & Pyruvate Carboxylase DeficiencyDLAT, DLD, LIAS, MPC1, PC, PDHA1 +3 · 3 conditions
- Salla Disease and Free Sialic Acid Storage DiseaseSLC17A5 · 3 conditions
- Sandhoff Disease and GM2 Activator DeficiencyGM2A, HEXB · 2 conditions
- Tay-Sachs DiseaseHEXA · 1 condition
- TrimethylaminuriaFMO3 · 1 condition
- TyrosinemiaFAH, HPD, TAT · 2 conditions
- Urea Cycle DisorderARG1, ASL, ASS1, CA5A, CPS1, GLUD1 +6 · 2 conditions
- Very Long Chain Acyl-Coa Dehydrogenase DeficiencyACADVL · 1 condition
- Wilson DiseaseATP7B · 1 condition
Betegségi jelentések
Musculoskeletal
Disorders involving the bones, joints, ligaments, tendons, and muscles, affecting movement and the body's structure.
Genome Test megrendelése →Condition reports in this category(31)
- Achondrogenesis panelCOL2A1, GDF5, SLC26A2, TRIP11 · 1 condition
- CherubismSH3BP2 · 1 condition
- Cleidocranial DysplasiaCBFB, RUNX2 · 2 conditions
- Congenital Muscular DystrophiesB3GALNT2, B4GAT1, CHKB, COL12A1, COL6A1, COL6A2 +23 · 3 conditions
- Congenital MyopathiesACTA1, BIN1, CFL2, DNM2, KBTBD13, KLHL40 +14 · 7 conditions
- Cornelia de Lange SyndromeBRD4, HDAC8, NIPBL, RAD21, SMC1A, SMC3 · 1 condition
- Distal MyopathiesADSS1, ANO5, CRYAB, DNAJB4, DYSF, FLNC +13 · 6 conditions
- Dystrophinopathies (Duchenne and Becker Muscular Dystrophy)DMD · 2 conditions
- Ehlers-Danlos SyndromeADAMTS2, AEBP1, B3GALT6, B4GALT7, C1R, C1S +15 · 3 conditions
- Epiphyseal and Spondyloepiphyseal DysplasiasCOL2A1, COL9A1, COL9A2, COL9A3, COMP, FN1 +3 · 12 conditions
- FGFR3-Related Chondrodysplasias (Achondroplasia and Related Conditions)FGFR3 · 1 condition
- Facioscapulohumeral Muscular Dystrophy (FSHD)1 condition
- Familial Paget Disease of BoneSQSTM1, TNFRSF11A, TNFRSF11B, ZNF687 · 4 conditions
- Hajdu-Cheney SyndromeNOTCH2 · 1 condition
- Hereditary FibromatosesANTXR2, PDGFRB · 2 conditions
- Hereditary Multiple OsteochondromasEXT1, EXT2 · 1 condition
- Hereditary Rickets (Hypophosphatemic and Vitamin D-Dependent)CYP27B1, CYP2R1, DMP1, ENPP1, FGF23, PHEX +2 · 2 conditions
- Inherited ArthropathiesANKH, PRG4 · 2 conditions
- Kabuki SyndromeKDM6A, KMT2D · 1 condition
- Limb-Girdle Muscular DystrophyANO5, CAPN3, CAV3, COL6A1, COL6A2, COL6A3 +28 · 3 conditions
- Marfan Like SyndromesBGN, FBN1, FBN2, SKI, SMAD2, SMAD3 +4 · 6 conditions
- Monogenic Early-Onset OsteoporosisCOPB2, PLS3, WNT1 · 4 conditions
- Myofibrillar MyopathiesBAG3, CRYAB, DES, FLNC, HSPB8, KY +7 · 1 condition
- Osteoarthritis1 condition
- Osteogenesis ImperfectaANO5, ATP6V0A2, BMP1, COL1A1, COL1A2, CREB3L1 +28 · 2 conditions
- OsteopetrosisAMER1, CA2, CLCN7, CTSK, FERMT3, LRP5 +8 · 1 condition
- Overgrowth Syndromes (Sotos, Weaver, Tatton-Brown-Rahman, Malan)DNMT3A, EZH2, NFIX, NSD1 · 4 conditions
- Rheumatoid Arthritis1 condition
- SHOX Deficiency (Leri-Weill and Langer Dysplasia)SHOX · 2 conditions
- Sclerosing Bone Dysplasias (High Bone Mass)LRP5, MTAP, SFRP4, SOST, TGFB1 · 5 conditions
- Syndromic CraniosynostosisCYP26B1, ERF, FGFR1, FGFR2, FGFR3, IFT122 +17 · 1 condition
Betegségi jelentések
Neurological
Conditions affecting the brain, spinal cord, and the network of nerves that control the body.
Genome Test megrendelése →Condition reports in this category(59)
- Adult-Onset Leukodystrophies (CSF1R, LMNB1, Nasu-Hakola)CSF1R, LMNB1, TREM2, TYROBP · 3 conditions
- Aicardi-Goutieres SyndromeADAR, IFIH1, RNASEH2A, RNASEH2B, RNASEH2C, RNU7-1 +2 · 8 conditions
- Alexander DiseaseGFAP · 1 condition
- Alzheimer diseaseAPOE, APP, PSEN1, PSEN2, TREM2 · 1 condition
- Amyotrophic Lateral Sclerosis (ALS)ALS2, ANG, ANXA11, C9orf72, CCNF, CHCHD10 +23 · 1 condition
- Angelman SyndromeUBE3A · 1 condition
- Autosomal Dominant Cerebellar Ataxias (SCAs and DRPLA)AFG3L2, ATN1, ATP1A3, ATXN1, ATXN10, ATXN2 +30 · 1 condition
- Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)AHI1, ANO10, ATCAY, ATG7, ATP8A2, CA8 +51 · 1 condition
- Basal Ganglia CalcificationJAM2, MYORG, NAA60, PDGFB, PDGFRB, SLC20A2 +1 · 4 conditions
- Canavan DiseaseASPA · 1 condition
- Cerebral Amyloid AngiopathyAPP, CST3, ITM2B · 1 condition
- Cerebral Arteriopathy with Subcortical Infarcts and LeukoencephalopathyHTRA1, NOTCH3 · 1 condition
- Cerebral Cavernous MalformationCCM2, KRIT1, MAP3K3, PDCD10 · 5 conditions
- Cerebrotendinous XanthomatosisCYP27A1 · 1 condition
- Charcot-Marie-Tooth DiseaseAARS1, AIFM1, ATP1A1, ATP7A, BSCL2, CADM3 +72 · 2 conditions
- Congenital Myasthenic SyndromeAGRN, ALG14, ALG2, CHAT, CHRNA1, CHRNB1 +21 · 6 conditions
- DNMT1-Related Ataxia, Deafness and Narcolepsy (ADCA-DN)DNMT1 · 1 condition
- Dravet SyndromeSCN1A · 1 condition
- Dystonia, Myotonia, Paroxysmal DyskinesiaACTB, ANO3, ARFGEF3, ATP1A3, BCAP31, CLCN1 +30 · 21 conditions
- Epilepsy (Full Panel)AARS1, ABAT, ACTL6B, ADAM22, ALDH7A1, ALG13 +186 · 5 conditions
- Familial Hemiplegic MigraineATP1A2, CACNA1A, SCN1A · 8 conditions
- Familial Periodic ParalysisCACNA1S, KCNJ2, SCN4A · 1 condition
- Fragile X SyndromeFMR1 · 2 conditions
- Friedreich AtaxiaFXN · 1 condition
- Frontotemporal DementiaC9orf72, CCNF, CHCHD10, CHMP2B, CYLD, GRN +7 · 2 conditions
- Genetic Prion Disease (incl. Fatal Familial Insomnia)PRNP · 5 conditions
- Hereditary Episodic AtaxiasCACNA1A, KCNA1, SCN2A, SLC1A3 · 1 condition
- Hereditary Neuropathy with Liability to Pressure Palsies (HNPP)PMP22 · 1 condition
- Hereditary Sensory and Autonomic Neuropathies (incl. Familial Dysautonomia)AIFM1, ATL1, ATL3, CLCF1, CRLF1, DNMT1 +15 · 1 condition
- Hereditary Spastic ParaplegiaABCD1, ABHD16A, ALDH18A1, AMFR, AP4B1, AP4E1 +60 · 20 conditions
- Huntington DiseaseHTT · 1 condition
- Intracranial Berry AneurysmTHSD1 · 1 condition
- Joubert Syndrome And Related DisordersAHI1, ARL13B, ARL3, ARMC9, B9D1, B9D2 +31 · 2 conditions
- Krabbe DiseaseGALC · 1 condition
- Lamb-Shaffer SyndromeSOX5 · 1 condition
- Leigh SyndromeAIFM1, ATP5MK, BTD, COX10, DLAT, DLD +63 · 1 condition
- Meckel SyndromeB9D1, B9D2, KIF14, MKS1, RPGRIP1L, TCTN2 +4 · 1 condition
- Megalencephalic Leukoencephalopathy with Subcortical CystsGPRC5B, HEPACAM, MLC1 · 1 condition
- Metachromatic LeukodystrophyARSA, PSAP · 1 condition
- Mowat-Wilson SyndromeZEB2 · 1 condition
- Multiple Sclerosis1 condition
- Myotonic DystrophyCNBP, DMPK · 1 condition
- Neuroacanthocytosis and Huntington Disease PhenocopiesJPH3, VPS13A, XK · 2 conditions
- Neurodegeneration with Brain Iron Accumulation (NBIA)ATP13A2, C19orf12, COASY, CP, DCAF17, FTH1 +4 · 1 condition
- NeurofibromatosisLZTR1, NF1, NF2, SMARCB1 · 1 condition
- Neuronal Ceroid LipofuscinosisATP13A2, CLCN6, CLN3, CLN5, CLN6, CLN8 +8 · 3 conditions
- Other Inherited LeukodystrophiesAARS1, AARS2, ABCD1, ACER3, ADAR, AIMP1 +74 · 1 condition
- Parkinson DiseaseATP13A2, CHCHD2, DNAJC6, FBXO7, GBA1, LRRK2 +9 · 2 conditions
- Pelizaeus-Merzbacher Disease & Hypomyelinating LeukodystrophiesAIMP1, AIMP2, ATP11A, CLDN11, DARS1, DEGS1 +19 · 20 conditions
- Rett Syndrome and MECP2-Related DisordersMECP2 · 3 conditions
- Riboflavin Transporter DeficiencySLC52A2, SLC52A3 · 1 condition
- Spinal Muscular AtrophyASAH1, ATP7A, BICD2, BSCL2, CHCHD10, DCTN1 +22 · 1 condition
- Spinal and Bulbar Muscular Atrophy (Kennedy Disease)AR · 1 condition
- Tuberous SclerosisTSC1, TSC2 · 1 condition
- Vanishing White Matter DiseaseAARS2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5 · 1 condition
- Vascular Dementia Panel1 condition
- Waardenburg SyndromeEDN3, EDNRB, KITLG, MITF, PAX3, SNAI2 +1 · 2 conditions
- X-Linked Adrenoleukodystrophy (ABCD1)ABCD1 · 1 condition
- Zellweger Spectrum & Peroxisome Biogenesis DisordersPEX1, PEX10, PEX11B, PEX12, PEX13, PEX14 +8 · 1 condition
Betegségi jelentések
Nutrition
Issues related to diet, dietary intake, and the body's ability to absorb and utilize nutrients.
Genome Test megrendelése →Condition reports in this category(6)
- Acrodermatitis EnteropathicaSLC30A2, SLC39A4 · 2 conditions
- Glucose-Galactose MalabsorptionSLC5A1 · 1 condition
- Hereditary Folate MalabsorptionSLC46A1 · 1 condition
- Hereditary Manganese Transporter DisordersSLC30A10, SLC39A14 · 1 condition
- Lactase Non-Persistence (Adult-Type Lactose Intolerance)1 condition
- Thiamine Transporter and Metabolism DisordersSLC19A2, SLC19A3, SLC25A19, TPK1 · 1 condition
Betegségi jelentések
Ophthalmological
Conditions affecting the eyes, vision, and related structures.
Genome Test megrendelése →Condition reports in this category(21)
- AchromatopsiaATF6, CNGA3, CNGB3, GNAT2, OPN1LW, OPN1MW +2 · 6 conditions
- Age-Related Macular DegenerationCFH, MFSD8 · 2 conditions
- Anterior Segment Dysgenesis, Axenfeld-Rieger Syndrome & AniridiaCPAMD8, ELP4, FOXC1, FOXE3, ITPR1, PAX6 +3 · 3 conditions
- ChoroideremiaCHM · 1 condition
- Colour Vision DeficiencyOPN1LW, OPN1MW, OPN1SW · 4 conditions
- Congenital Cranial Dysinnervation DisordersCHN1, COL25A1, KIF21A, MAFB, PHOX2A, TUBA1A +1 · 2 conditions
- Congenital Stationary Night BlindnessCABP4, CACNA1F, GNAT1, GNB3, GPR179, GRK1 +13 · 2 conditions
- GlaucomaCYP1B1, EFEMP1, FOXC1, LTBP2, MYOC, OPTN +2 · 1 condition
- Gyrate Atrophy of the Choroid and RetinaOAT · 1 condition
- Hereditary Congenital & Juvenile CataractBFSP1, CHMP4B, CRYAB, CRYBA1, CRYBA2, CRYBA4 +17 · 2 conditions
- Hereditary Corneal DystrophiesCHST6, COL17A1, COL8A2, DCN, GRHL2, GSN +13 · 1 condition
- Hereditary Macular DystrophiesBEST1, CYP4V2, EFEMP1, PRDM13, PRPH2, RDH5 +4 · 8 conditions
- Hereditary Optic NeuropathyACO2, AFG3L2, ATP1A3, DNM1L, MT-ND1, MT-ND4 +7 · 1 condition
- Leber Congenital Amaurosis & RPE65-Related RetinopathyAIPL1, CCT2, CEP290, CRB1, CRX, GUCY2D +15 · 3 conditions
- Microphthalmia, Anophthalmia & ColobomaALDH1A3, BCOR, BMP4, COX7B, ERCC1, ERCC2 +22 · 2 conditions
- Molybdenum Cofactor & Isolated Sulfite Oxidase DeficiencyGPHN, MOCS1, MOCS2, SUOX · 2 conditions
- Oculocutaneous AlbinismDCT, GPR143, LRMDA, OCA2, SLC24A5, SLC45A2 +2 · 2 conditions
- Retinitis PigmentosaABCA4, AGBL5, AHR, ARHGEF18, ARL2BP, ARL3 +74 · 26 conditions
- Smith-Lemli-Opitz SyndromeDHCR7 · 1 condition
- Stargardt DiseaseABCA4, ELOVL4, PROM1 · 4 conditions
- VitreoretinopathyATOH7, BEST1, CAPN5, COL11A1, COL18A1, COL2A1 +21 · 9 conditions
Betegségi jelentések
Oral
A broader category than dental, including conditions of the entire mouth, such as the tongue, salivary glands, and inner lining (mucosa).
Genome Test megrendelése →Condition reports in this category(6)
- Amelogenesis ImperfectaACP4, AMBN, AMELX, DLX3, ENAM, FAM20A +11 · 1 condition
- Dentinogenesis ImperfectaDSPP, SMOC2 · 2 conditions
- Hereditary Gingival FibromatosisREST, SOS1 · 1 condition
- Hereditary Orofacial CleftingARHGAP29, BMP4, GRHL3, IRF6, MSX1, TBX22 · 6 conditions
- Hypodontia and AnodontiaEDA, LRP6, MSX1, PAX9, TSPEAR, WNT10A +1 · 2 conditions
- Primary Failure of Tooth EruptionPTH1R · 1 condition
Betegségi jelentések
Other
Miscellaneous conditions that do not fit into other classifications.
Genome Test megrendelése →Condition reports in this category(5)
- 22q11.2 Deletion SyndromeTBX1 · 1 condition
- Bardet-Biedl and Alström SyndromesALMS1, ARL6, BBIP1, BBS1, BBS10, BBS12 +17 · 2 conditions
- CHARGE SyndromeCHD7 · 1 condition
- Imprinting Disorders: Prader-Willi, Silver-Russell and Beckwith-WiedemannCDKN1C, H19, HMGA2, IGF2, MAGEL2, NLRP5 +3 · 3 conditions
- Werner SyndromeWRN · 1 condition
Betegségi jelentések
Otolaryngological
Conditions related to the ear, nose, and throat.
Genome Test megrendelése →Condition reports in this category(6)
- Branchio-Oto-Renal Spectrum DisorderEYA1, SIX1, SIX5 · 1 condition
- Deafness-Dystonia-Optic Neuronopathy SyndromeTIMM8A · 1 condition
- Hearing Loss and DeafnessACTG1, AFG2B, AIFM1, ATP11A, ATP2B2, CABP2 +91 · 5 conditions
- Johanson-Blizzard SyndromeUBR1 · 1 condition
- Treacher Collins SyndromePOLR1B, POLR1C, POLR1D, TCOF1 · 1 condition
- Usher SyndromeADGRV1, ARSG, CDH23, CLRN1, HARS1, MYO7A +5 · 1 condition
Betegségi jelentések
Psychiatric
Disorders affecting mental health, mood, behaviour, and emotional well-being.
Genome Test megrendelése →Betegségi jelentések
Respiratory
Conditions involving the lungs, airways (trachea, bronchi), and the mechanics of breathing.
Genome Test megrendelése →Condition reports in this category(10)
- Alpha-1 Antitrypsin DeficiencySERPINA1 · 1 condition
- Alveolar Capillary Dysplasia with Misalignment of Pulmonary VeinsFOXF1 · 1 condition
- Asthma1 condition
- Congenital Central Hypoventilation SyndromePHOX2B · 1 condition
- Congenital Diaphragmatic Hernia (Monogenic)ALDH1A2, PLS3, ZFPM2 · 1 condition
- Cystic FibrosisCFTR · 1 condition
- Familial Pulmonary FibrosisNAF1, PARN, POT1, RPA1, RTEL1, SFTPA1 +3 · 3 conditions
- Primary Ciliary DyskinesiaCCDC39, CCDC40, CCNO, CENPF, CFAP20DC, CFAP221 +44 · 1 condition
- Pulmonary Alveolar MicrolithiasisSLC34A2 · 1 condition
- Surfactant Metabolism DysfunctionABCA3, CSF2RA, CSF2RB, MARS1, SFTPB, SFTPC · 2 conditions
Betegségi jelentések
Sexual Health
Issues related to reproductive health, sexual function, and sexually transmitted infections (STIs).
Genome Test megrendelése →Condition reports in this category(8)
- 46,XX Differences of Sex DevelopmentNR5A1, RSPO1, SOX3, SRY · 1 condition
- 46,XY Differences of Sex Development and Gonadal DysgenesisAMH, AMHR2, AR, ATRX, CYP11A1, DHH +13 · 5 conditions
- Androgen Insensitivity SyndromeAR · 1 condition
- Female InfertilityANKRD31, ATM, BMP15, BNC1, BTG4, CDC20 +47 · 4 conditions
- Hereditary HypospadiasMAMLD1 · 4 conditions
- Male InfertilityACTL9, ARMC2, AURKC, BCORL1, CDC14A, CFAP251 +38 · 5 conditions
- Müllerian Aplasia (MRKH Syndrome)TBX6, WNT4 · 1 condition
- Sex Chromosome Aneuploidies5 conditions
Betegségi jelentések
Sleep
Disorders that affect the quality, timing, and amount of sleep, impacting overall health.
Genome Test megrendelése →Condition reports in this category(1)
Betegségi jelentések
Toxicology
Conditions resulting from exposure to poisons, toxins, drugs, or other harmful chemical substances.
Genome Test megrendelése →Betegségi jelentések
Urological
Disorders related to the kidneys and prostate, their function, and the overall urinary system.
Genome Test megrendelése →Condition reports in this category(21)
- Alport SyndromeCOL4A3, COL4A4, COL4A5 · 1 condition
- Autosomal Dominant Tubulointerstitial Kidney DiseaseHNF1B, MUC1, REN, SEC61A1, UMOD · 2 conditions
- Bartter DiseaseBSND, CLCNKB, KCNJ1, MAGED2, SLC12A1 · 6 conditions
- Congenital Anomalies of the Kidney and Urinary TractDSTYK, EYA1, GFRA1, GREB1L, ITGA8, PAX2 +5 · 8 conditions
- CystinuriaSLC3A1, SLC7A9 · 1 condition
- Dent Disease and Lowe SyndromeCLCN5, OCRL · 2 conditions
- Familial HypomagnesemiaATP1A1, CLDN10, CLDN16, CLDN19, CNNM2, FXYD2 +5 · 3 conditions
- Fanconi Renotubular Syndrome and Renal GlucosuriaEHHADH, GATM, HNF4A, SLC5A2 · 2 conditions
- Focal Segmental GlomerulosclerosisACTN4, ANLN, APOL1, CD2AP, CRB2, FAT1 +4 · 3 conditions
- Gitelman SyndromeSLC12A3 · 1 condition
- GlomerulosclerosisACTN4, ANLN, CRB2, FAT1, INF2, MYO1E +2 · 1 condition
- Hemolytic Uremic Syndrome, Interstitial NephritisC3, CD46, CFB, CFH, CFHR5, CFI +3 · 22 conditions
- Kidney CancerBAP1, ELP4, FLCN, MET, PAX6, SDHB +3 · 1 condition
- Nephrogenic Diabetes InsipidusAQP2, AVPR2 · 2 conditions
- Nephronophthisis and Senior-Løken SyndromeADAMTS9, ANKS6, CEP164, CEP83, DCDC2, GLIS2 +14 · 2 conditions
- Nephrotic SyndromeACTN4, ARHGDIA, COQ6, COQ8B, DAAM2, DGKE +23 · 1 condition
- Polycystic Kidney DiseaseALG5, ALG8, ALG9, DNAJB11, DZIP1L, GANAB +5 · 1 condition
- Renal HypouricemiaSLC22A12, SLC2A9 · 1 condition
- Renal Tubular AcidosisATP6V0A4, ATP6V1B1, FOXI1, SLC4A1, SLC4A3, SLC4A4 · 2 conditions
- Renal Tubular DysgenesisACE, AGT, AGTR1, REN · 1 condition
- Urinary and Renal System TumourBAP1, ELP4, FLCN, MET, PAX6, RET +6 · 1 condition
Kockázati pontszámok
Brain & nervous system
Genetic predisposition to neurological conditions such as dementia and migraine.
Genome Test megrendelése →Risk scores in this category(2)
Kockázati pontszámok
Cancer
Diseases characterized by the uncontrolled growth and spread of abnormal cells; also known as oncological conditions.
Genome Test megrendelése →Risk scores in this category(7)
Kockázati pontszámok
Heart & circulation
Genetic predisposition to heart disease, stroke, blood clots and the blood markers behind them.
Genome Test megrendelése →Kockázati pontszámok
Immune & inflammatory
Genetic predisposition to autoimmune, allergic and inflammatory conditions.
Genome Test megrendelése →Risk scores in this category(5)
Kockázati pontszámok
Lifestyle & traits
Genetic influences on everyday traits such as sleep, coffee, vitamin D and skin.
Genome Test megrendelése →Risk scores in this category(6)
Kockázati pontszámok
Longevity & ageing
Genetic influences on lifespan and on conditions that become more common with age.
Genome Test megrendelése →Risk scores in this category(7)
Kockázati pontszámok
Mental health & wellbeing
Genetic predisposition to common mental health conditions and aspects of wellbeing.
Genome Test megrendelése →Risk scores in this category(8)
Kockázati pontszámok
Metabolism & body
Genetic influences on blood sugar, body size and metabolic health.
Genome Test megrendelése →Risk scores in this category(5)
Ezek is benne vannak
Egy szekvenálás több kérdésre is választ ad.
Az alábbi valamennyi elemzéshez ugyanazokat a teljes genom adatokat dolgozzuk fel újra – nincs szükség második mintára, és nincs szükség további tesztkészletre.
Mindkét ágat, a teljes genomból.
Autoszomális származás minden felmenői ágra vonatkozóan, valamint Y-kromoszóma-elemzés az apai egyenes ágra – a teljes genomból, nem pedig abból a töredékből, amelyet a genotipizáló chip vizsgál.
Egyetlen teszt lefedi az oldalon felsorolt összes állapotot.
Az Ön teljes genomját klinikai minőségű, 30x mélységű szekvenálással elemzik. A fent felsorolt összes állapotot – és több ezer további állapotot – egyetlen tesztben vizsgálják meg. Az eredmények 6–8 héten belül 470+ orvos számára is használható jelentésben érkeznek.
Ingyenes szállítás · Eredmények 6–8 hét alatt
