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Xcode Life carrier status report
A-CD-FG-HI-NO-Z
Aarskog syndromeDigitorenocerebral syndromeGardner syndromeIchthyosis prematurity syndromeOral-facial-digital syndrome
Achalasia-alacrima syndromeDistal hereditary motor neuronopathyGenitopatellar syndromeIFAP syndrome with or without BRESHECK syndromeOsler hemorrhagic telangiectasia syndrome
Acrocallosal syndromeDominant hereditary optic atrophyGerstmann-Straussler-Scheinker syndromeInborn genetic diseasesOto-palato-digital syndrome
Adams-Oliver syndromeDonnai Barrow syndromeGlucose transporter type 1 deficiency syndromeInfantile liver failure syndromeOvarian hyperstimulation syndrome
Aicardi Goutieres syndromeDuane syndromeGhosal hematodiaphyseal syndromeInfantile-onset ascending hereditary spastic paralysisPachydermoperiostosis syndrome
Alagille syndromeDubin-Johnson syndromeGLUT1 deficiency syndromeInsulin-dependent diabetes mellitus secretory diarrhea syndromePancreatic agenesis and congenital heart disease
Allan-Herndon-Dudley syndromeDyggve-Melchior-Clausen syndromeGLUT10 deficiency syndromeJackson-Weiss syndromePapillon-Lefavre syndrome
Alopecia, neurologic defects, and endocrinopathy syndromeEctodermal dysplasia-syndactyly syndromeGLUT6 deficiency syndromeJankovic Rivera syndromeParoxysmal familial ventricular fibrillation
Alport syndromeEctrodactyly, ectodermal dysplasia, and cleft lip/palate syndromeGoldmann-Favre syndromeJervell and Lange-Nielsen syndromePeeling skin syndrome
Alstrom syndromeEEM syndromeGonadotropin-independent familial sexual precocityJohanson-Blizzard syndromePena-Shokeir syndrome
Andermann syndromeEhlers-Danlos syndromeGorlin syndromeJoubert syndromePendred's syndrome
Andersen Tawil syndromeEichsfeld type congenital muscular dystrophyHaim-Munk syndromeJuvenile polyposis syndromePeroxisome biogenesis disorders
Angelman syndromeEnhanced s-cone syndromeHajdu-Cheney syndromeJuvenile polyposis/hereditary hemorrhagic telangiectasia syndromePerrault Syndrome
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesisEnlarged vestibular aqueduct syndromeHelsmoortel-van der aa syndromeKabuki syndromePerry syndrome
Arterial tortuosity syndromeEpidermal nevus syndromeHennekam lymphangiectasia-lymphedema syndromeKaeser type neurogenic Scapuloperoneal syndromePeters plus syndrome
Ataxia-telangiectasia syndromeFamilial adenomatous polyposisHereditary acrodermatitis enteropathicaKallmann syndromePettigrew syndrome
ATR-X syndromefamilial Advanced sleep phase syndromeHereditary breast and ovarian cancer syndromeKartagener syndromePeutz-Jeghers syndrome
Atypical Rett syndromefamilial Alzheimer diseaseHereditary cancer-predisposing syndromeKeratitis-Ichthyosis-Deafness SyndromePfeiffer syndrome
Auriculocondylar syndromeFamilial amyloid polyneuropathyhereditary Colorectal cancerKnuckle pads, deafness AND leukonychia syndromePierson syndrome
Autoimmune polyglandular syndromeFamilial aortopathyHereditary congenital facial paresisLeber congenital amaurosisPili torti-deafness syndrome
Autosomal dominant optic atrophy plus syndromefamilial Atrial fibrillationHereditary coproporphyriaLeigh syndromePitt-Hopkins syndrome
autosomal dominant Wolfram-like syndromeFamilial Breast-Ovarian CancerHereditary cutaneous melanomaLEOPARD syndromePitt-Hopkins-like syndrome
Autosomal recessive congenital ichthyosisFamilial cancer of breastHereditary diffuse gastric cancerLeprechaunism syndromePolyglandular autoimmune syndrome
Autosomal recessive Dejerine-Sottas syndromefamilial Cd8 deficiencyHereditary diffuse leukoencephalopathyLesch-Nyhan syndromePoretti-boltshauser syndrome
Autosomal recessive hypohidrotic ectodermal dysplasia syndromeFamilial dysautonomiahereditary essential TremorLethal Congenital Contracture SyndromePrimary familial hypertrophic cardiomyopathy
Axenfeld-Rieger syndromefamilial DyskinesiaHereditary factor II deficiency diseaseLethal multiple pterygium syndromeProgressive familial heart block
Bannayan-Riley-Ruvalcaba syndromefamilial ErythrocytosisHereditary factor IX deficiency diseaseLethal tight skin contracture syndromeProgressive familial intrahepatic cholestasis
Baraitser-Winter syndromeFamilial exudative vitreoretinopathyHereditary factor XI deficiency diseaseLi-Fraumeni syndromeProliferative vasculopathy and hydranencephaly-hydrocephaly syndrome
Bardet-Biedl syndromefamilial focal EpilepsyHereditary fructosuriaLi-Fraumeni-like syndromeProud Levine Carpenter syndrome
Bartter syndromefamilial Hemophagocytic lymphohistiocytosishereditary hemorrhagic TelangiectasiaLig6 syndromePTEN hamartoma tumor syndrome
Beckwith-Wiedemann syndromefamilial HypercholanemiaHereditary insensitivity to pain with anhidrosisLoeys-Dietz syndromePulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia
benign familial infantile SeizuresFamilial hypercholesterolemiaHereditary leiomyomatosis and renal cell cancerLong QT syndromeRadial aplasia-thrombocytopenia syndrome
Benign familial neonatal seizuresfamilial Hyperinsulinemic hypoglycemiaHereditary lymphedemaLOPES-MACIEL-RODAN SYNDROMERapadilino syndrome
Benign familial neonatal-infantile seizuresFamilial hyperinsulinismHereditary motor and sensory neuropathyLowe syndromeRapp-Hodgkin ectodermal dysplasia syndrome
Bent bone dysplasia syndromefamilial HyperlipidemiaHereditary MyopathyLucey-Driscoll syndromeRett syndrome
Bernard Soulier syndromeFamilial hypertrophic cardiomyopathyHereditary myopathy with early respiratory failureLynch syndromeRevesz syndrome
Birk Barel mental retardation dysmorphism syndromeFamilial hypoalphalipoproteinemiaHereditary nonpolyposis colorectal cancerMacrocephaly/autism syndromeReynolds syndrome
Bjornstad syndrome with mild mitochondrial complex III deficiencyfamilial Hypocalciuric hypercalcemiaHereditary pancreatitisMajeed syndromeRoberts-SC phocomelia syndrome
Blepharophimosis syndromeFamilial hypokalemia-hypomagnesemiaHereditary Paraganglioma-Pheochromocytoma SyndromesMarfan lipodystrophy syndromeRothmund-Thomson syndrome
Bloom syndromefamilial Hypoparathyroidismhereditary Prostate cancerMarfan syndromeRotor syndrome
Borjeson-Forssman-Lehmann syndromeFamilial hypoplastic, glomerulocystic kidneyHereditary sensory and autonomic neuropathyMarinesco-Sjagren syndromeRubinstein-Taybi syndrome
Bosch-Boonstra-Schaaf optic atrophy syndromefamilial Infantile convulsions and paroxysmal choreoathetosisHermansky-Pudlak syndromeMarles Greenberg Persaud syndromeSanfilippo syndrome
Brachydactyly syndromeFamilial infantile myastheniaHeterotaxy syndromeMcCune-Albright syndromeSchaaf-yang syndrome
Branchiooculofacial syndromefamilial infantile Myoclonic epilepsyHidrotic ectodermal dysplasia syndromeMcKusick Kaufman syndromeSchinzel-Giedion syndrome
Brown-Vialetto-Van Laere syndromeFamilial Intrahepatic CholestasisHistiocytosis-lymphadenopathy plus syndromeMcLeod neuroacanthocytosis syndromeSchopf-Schulz-Passarge syndrome
Bruck Syndromefamilial limb-girdle MyastheniaHolt-Oram syndromeMeckel syndromeSchuurs-hoeijmakers syndrome
Brugada syndromeFamilial Mediterranean feverHurler syndromeMeckel-Gruber syndromeSeckel syndrome
Carbohydrate-deficient glycoprotein syndromeFamilial medullary thyroid carcinomaHutchinson-Gilford progeria syndromeMegalencephaly-polymicrogyria-polydactyly-hydrocephalus syndromeSegawa syndrome
Cardio-facio-cutaneous syndromefamilial MeningiomaHutchinson-Gilford syndromeMegaloblastic anemia due to inborn errors of metabolismSenior-Loken syndrome
Carnevale syndromeFamilial multiple polyposis syndromeHyaline fibromatosis syndromeMeier-Gorlin syndromeSeSAME syndrome
Cerebrooculofacioskeletal Syndromefamilial Paget disease of boneHydrolethalus syndromeMelnick-Fraser syndromeSessile serrated polyposis cancer syndrome
Child syndromeFamilial partial lipodystrophyHyperekplexia hereditaryMelnick-Needles syndromeSevere congenital neutropenia
Christianson syndromeFamilial porphyria cutanea tardaHyperimmunoglobulin E syndromeMEND syndromeShort Rib Polydactyly Syndrome
Chromosome 2q32-q33 deletion syndromeFamilial restrictive cardiomyopathyHyperinsulinism-hyperammonemia syndromeMenkes kinky-hair syndromeSHORT syndrome
COACH syndromefamilial spinal NeurofibromatosisHyperornithinemia-hyperammonemia-homocitrullinuria syndromeMental retardation-hypotonic facies syndrome X-linkedShprintzen-Goldberg syndrome
Cockayne syndromefamilial thoracic Aortic aneurysmHyperphosphatasia with mental retardation syndromeMerosin deficient congenital muscular dystrophySick sinus syndrome
Coffin-Siris syndromeFamilial X-linked hypophosphatemic vitamin D refractory ricketsHypomyelination and Congenital CataractMicrocephaly-capillary malformation syndromeSiderius X-linked mental retardation syndrome
Cohen syndromeFanconi renotubular syndrome 4 with maturity-onset diabetes of the youngHypoplastic enamel-onycholysis-hypohidrosis syndromeMiller syndromeSilver spastic paraplegia syndrome
Congenital absence of salivary glandFG syndromeHypoplastic left heart syndromeMitchell-Riley syndromeSimpson-Golabi-Behmel syndrome
Congenital adrenal hyperplasiaFinnish congenital nephrotic syndromeHypotrichosis-lymphedema-telangiectasia syndromeMitochondrial DNA depletion syndromeSjagren-Larsson syndrome
Congenital adrenal hypoplasiaFloating-Harbor syndromeMorquio syndromeslow-channel congenital Myasthenic syndrome
Congenital amegakaryocytic thrombocytopeniaFreeman-Sheldon syndromeMowat-Wilson syndromeSmith-Lemli-Opitz syndrome
Congenital bilateral absence of the vas deferensFuhrmann syndromeMuir-Torrao syndromeSmith-Magenis syndrome
congenital Bile acid synthesis defectFukuyama congenital muscular dystrophyMulibrey nanism syndromeSotos Syndrome
Congenital cataractMultiple congenital anomaliesSpondylocarpotarsal synostosis syndrome
Congenital diaphragmatic herniaMultiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defectsSteel syndrome
congenital DiarrheaMultiple mitochondrial dysfunctions syndromeStickler syndrome
Congenital disorder of deglycosylationMultisystemic smooth muscle dysfunction syndromeStiff skin syndrome
Congenital disorder of glycosylationMuscular dystrophy-dystroglycanopathyStuve-Wiedemann syndrome
congenital Distal spinal muscular atrophyMyelodysplastic syndromeSUDDEN INFANT DEATH SYNDROME
Congenital dyserythropoietic anemiaMyhre syndromeSyndrome of entercolitis and autoinflmmation caused by mutation of NLRC4 (SCAN4)
Congenital erythropoietic porphyriaNager syndromeThiamine Metabolism Dysfunction Syndrome
Congenital generalized lipodystrophyNance-Horan syndromeThree M syndrome
congenital GlaucomaNephrotic syndromeThrombophilia, hereditary, due to protein C deficiency, autosomal dominant
Congenital glucose-galactose malabsorptionNeu-Laxova syndromeTimothy syndrome
congenital Glycogen storage disease of heartNeurofibromatosis-Noonan syndromeTNF receptor-associated periodic fever syndrome (TRAPS)
Congenital heart diseaseNeuropathy hereditary sensory and autonomicTransient myeloproliferative disorder of Down syndrome
Congenital hyperammonemiaNicolaides-Baraitser syndromeTrichohepatoenteric syndrome
Congenital HypothyroidismNijmegen breakage syndrome-like disorderTuberous sclerosis syndrome
Congenital ichthyosiform erythrodermanonsyndromic congenital Nail disorderTurcot syndrome
Congenital lactase deficiencyNoonan syndromeUllrich congenital muscular dystrophy
Congenital long QT syndromeNoonan-Like Syndrome DisorderUnverricht-Lundborg syndrome
Congenital microcephalyUpshaw-Schulman syndrome
Congenital muscular alpha-dystroglycanopathy with brain and eye anomaliesUsher syndrome
Congenital muscular dystrophyUV-sensitive syndrome
Congenital muscular dystrophy-dystroglycanopathyVan der Woude syndrome
Congenital muscular hypertrophy-cerebral syndromeVon Hippel-Lindau syndrome
congenital Myasthenic syndromeWalker-Warburg congenital muscular dystrophy
congenital MyopathyWarburg micro syndrome
Congenital myotoniaWeaver syndrome
congenital Neuromuscular diseaseWerner syndrome
congenital neuromuscular Glycogen storage diseaseWiskott-Aldrich syndrome
congenital NeutropeniaWolff-Parkinson-White syndrome
Congenital order of glycosylationWolfram syndrome
Congenital secretory diarrheaXFE progeroid syndrome
Congenital sensorineural hearing impairmentX-linked hereditary motor and sensory neuropathy
Congenital sensory neuropathyX-linked hydrocephalus syndrome
congenital stationary Night blindnessZellweger syndrome
Cornelia de Lange Syndrome
Costello syndrome
Cowden syndrome
Crouzon syndrome
Cryptophthalmos syndrome
Cushing's syndrome
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