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INSEMINACION ARTIFICIAL

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Cada paciente es diferente, pero juntos sabremos encontrar cuál es el tratamiento que mejor se adecua a tus condiciones.

 

TCG

En la actualidad, toda pareja que quiera evitar la transmisión de enfermedades genéticas a sus futuros hijos puede hacerlo realizando un Test de Compatibilidad Genética (TCG).

¿Qué es el Test de Compatibilidad Genética?

El Test de Compatibilidad Genética es una prueba que nos permite identificar en los futuros padres la presencia de genes causantes de enfermedades que podrían transmitir a sus hijos.

 Los portadores suelen ser personas sanas, pero en el caso de que los dos padres sean portadores de una mutación en el mismo gen, pueden tener un hijo afectado de una determinada enfermedad.

 

¿A quién va dirigido el Test de Compatibilidad Genética?

  • Parejas que buscan gestación natural, para verificar la compatibilidad de ambos progenitores y descartar que los dos sean portadores de la misma alteración.
  • Parejas con tratamiento de reproducción asistida, con el mismo fin, conocer la compatibilidad genética de ambos.
  • Pacientes que recurren a óvulos o semen de donante. En IVI hacemos el Test de Compatibilidad Genética a todos nuestros donantes, de manera que, si la paciente o el miembro de la pareja que aporta su propio gameto también se realiza el test, podemos buscar el/la donante más idóneo/a y así minimizar el riesgo de aparición de enfermedades genéticas.

¿Qué genes estudia el Test de Compatibilidad Genética?

El test TCG estudia un total de 6.600 mutaciones asociadas a 600 enfermedades genéticas.

Con el test, podemos reducir el riesgo de tener descendencia con una enfermedad genética de 1 de cada 100, que es el riesgo de la población general, a 1 de cada 30.000.

¿Cómo se realiza?

Se trata de una prueba muy sencilla, simplemente consiste en una extracción de sangre y el informe de resultados se obtiene en alrededor 3 semanas. Los pacientes pueden solicitar la extracción de sangre en la clínica IVI que deseen, que recibirá el resultado directamente del laboratorio de análisis.

¿Qué significa que ambos seamos portadores de la misma mutación?

Todos podemos ser portadores sanos sin presentar ningún síntoma. Ser portador significa que, de las dos copias de un determinado gen, solo una de ellas presenta la alteración. Al tener aún una copia intacta, el gen funciona correctamente y no tiene ninguna implicación para la persona portadora.

El problema se da cuando se produce la fecundación de los gametos de dos personas portadoras de una misma mutación, porque existe la posibilidad de tener descendencia afectada por la enfermedad. Cuando ambos progenitores son portadores, la probabilidad en cada embarazo de tener hijos con la enfermedad es del 25 % (o lo que es lo mismo, 1 de cada 4).

En estos casos, existe la posibilidad de realizar un estudio genético en los embriones (Test Genético Preimplantacional para el cribaje de aneuploidías o PGT-A), de manera que podemos analizar cuáles de ellos no están afectos y así pueden ser transferidos a la paciente.

Las opciones en ese caso serían:

Diagnóstico Genético Preimplantacional, para seleccionar los embriones sanos y continuar con el proceso de transferencia embrionaria.

Donación de gametos. Sustituyendo los gametos del miembro de la pareja portador de la anomalía genética por óvulos o esperma de un donante no portador.

    Dudas frequentes…

    ¿Qué es una enfermedad genética recesiva?

     

    Una enfermedad es genética cuando está causada por una o varias mutaciones en genes, es decir, por alteraciones en el material genético (ADN) de un individuo.

    Cada uno de nosotros hereda todos los genes por duplicado: una copia proviene de la madre y, la otra, del padre. Esto hace que las mutaciones sean transmisibles a la descendencia con una probabilidad del 50%.

    Las mutaciones no siempre causan una enfermedad. Que se padezca o no, dependerá, entre otros factores, de que sea recesiva o dominante.

    En el caso de las enfermedades con herencia recesiva, es necesario que tanto el padre como la madre transmitan la mutación para que el hijo esté afectado. Es decir, se tienen que tener las dos copias del gen con la mutación para tener la enfermedad.

    En una pareja de dos portadores, la probabilidad de que la descendencia esté afectada es del 25% (es decir, uno de cada cuatro hijos). Si solamente se hereda una de las dos copias mutadas, se es portador de la enfermedad, pero no enfermo.

    Por tanto, vemos que los individuos pueden ser:

    Sanos
    ni son portadores de la mutación ni presentan la enfermedad.
    Portadores
    tienen uno de los dos genes mutados, pero no están afectados por la enfermedad.
    Enfermos
    presentan la mutación y padecen la enfermedad.

    Las 600 enfermedades recesivas que detecta el Test de Compatibilidad Genética (TCG)

     

    COMPATIBILITY GENETIC TEST

    GENELOCUSDISEASEOMIM
    AAAS12q13.13Achalasia-addisonianism-alacrimia syndrome231550
    ABCA122q35Ichthyosis, autosomal recessive 4B (harlequin)242500
    ABCA316p13.3Surfactant metabolism dysfunction, pulmonary, 3610921
    ABCB112q31.1Cholestasis, benign recurrent intrahepatic, 2605479
    Cholestasis, progressive familial intrahepatic 2601847
    ABCB47q21.12Cholestasis, intrahepatic, of pregnancy, 3614972
    Cholestasis, progressive familial intrahepatic 3602347
    Gallbladder disease 1600803
    ABCC811p15.1Diabetes mellitus, noninsulin-dependent125853
    Diabetes mellitus, permanent neonatal606176
    Diabetes mellitus, transient neonatal 2610374
    Hyperinsulinemic hypoglycemia, familial, 1256450
    Hypoglycemia of infancy, leucine-sensitive240800
    ABCD1Xq28Adrenoleukodystrophy300100
    Adrenomyeloneuropathy, adult300100
    ACAD93q21.3Mitochondrial complex I deficiency due to ACAD9 deficiency611126
    ACADL17p13.1VLCAD deficiency201475
    ACADM1p31.1Acyl-CoA dehydrogenase, medium chain, deficiency of201450
    ACADVL17p13.1VLCAD deficiency201475
    ACAT111q22.3Alpha-methylacetoacetic aciduria203750
    ACOX117q25.1Peroxisomal acyl-CoA oxidase deficiency264470
    ACSL4Xq23Mental retardation, X-linked 63300387
    ADA20q13.12Severe combined immunodeficiency due to ADA deficiency102700
    Adenosine deaminase deficiency, partial102700
    ADAMTS139q34.2Thrombotic thrombocytopenic purpura, familial274150
    ADAMTSL29q34.2Geleophysic dysplasia 1231050
    ADCK31q42.13Coenzyme Q10 deficiency, primary, 4612016
    AFF2 (FMR2)Xq28Mental retardation, X-linked, FRAXE type309548
    AGL1p21.2Glycogen storage disease IIIa232400
    Glycogen storage disease IIIb232400
    AGPS2q31.2Rhizomelic chondrodysplasia punctata, type 3600121
    AGTR2Xq24Mental retardation, X-linked 88300852
    AHI16q23.3Joubert syndrome-3608629
    AIRE21q22.3

    Autoimmune polyendocrinopathy syndrome , type I, with or without

     

    reversible metaphyseal dysplasia

    240300
    ALDH3A217p11.2Sjogren-Larsson syndrome270200
    ALDH5A16p22.3Succinic semialdehyde dehydrogenase deficiency271980
    ALDH7A15q23.2Epilepsy, pyridoxine-dependent266100
    ALDOB9q31.1Fructose intolerance229600
    ALG116p13.3Congenital disorder of glycosylation, type Ik
    ALG1222q13.33Congenital disorder of glycosylation, type Ig607143
    ALG29q22.33Congenital disorder of glycosylation, type Ii607906
    Myasthenic syndrome, congenital, 14, with tubular aggregates616228
    ALG33q27.1Congenital disorder of glycosylation, type Id601110
    ALG61p31.3Congenital disorder of glycosylation, type Ic603147
    ALG811q14.1Congenital disorder of glycosylation, type Ih608104
    ALG911q23.1Congenital disorder of glycosylation, type Il608776
    ALMS12p13.1Alstrom syndrome203800
    ALPL1p36.12Hypophosphatasia, adult146300
    Hypophosphatasia, childhood241510
    Hypophosphatasia, infantile241500
    Odontohypophosphatasia146300
    ALS22q33.1Amyotrophic lateral sclerosis 2, juvenile205100
    Primary lateral sclerosis, juvenile606353
    Spastic paralysis, infantile onset ascending607225
    AMACR5p13.2Alpha-methylacyl-CoA racemase deficiency614307
    Bile acid synthesis defect, congenital, 4214950
    AMT3p21.31Glycine encephalopathy605899
    ANTXR24q21.21Hyaline fibromatosis syndrome228600
    AP1S2Xp22.2Mental retardation, X-linked syndromic 5304340
    AP3B15q14.1Hermansky-Pudlak syndrome 2608233
    APTX9p21.1Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia208920
    ARXq12Androgen insensitivity300068
    Androgen insensitivity, partial, with or without breast cancer312300
    Hypospadias 1, X-linked300633
    Spinal and bulbar muscular atrophy of Kennedy313200
    ARHGEF6Xq26.3Mental retardation, X-linked 46300436
    ARHGEF9Xq11.1-q11.2Epileptic encephalopathy, early infantile, 8300607
    ARSA22q13.33Metachromatic leukodystrophy250100
    ARSB5q14.1Mucopolysaccharidosis type VI (Maroteaux-Lamy)253200
    ARSEXp22.33Chondrodysplasia punctata, X-linked recessive302950
    ARXXp21.3Epileptic encephalopathy, early infantile, 1308350
    Hydranencephaly with abnormal genitalia300215
    Lissencephaly, X-linked 2300215
    Mental retardation, X-linked 29 and others300419
    Partington syndrome309510
    Proud syndrome300004
    ASL7q11.21Argininosuccinic aciduria207900
    ASPA17p13.2Canavan disease271900
    ASS19q34.11Citrullinemia215700
    ATM11q22.3Ataxia-telangiectasia208900
    ATP6V0A212q24.31Cutis laxa, autosomal recessive, type IIA219200
    Wrinkly skin syndrome278250
    ATP7AXq21.1Menkes disease309400
    Occipital horn syndrome304150
    Spinal muscular atrophy, distal, X-linked 3300489
    ATP7B13q14.3Wilson disease277900
    ATP8B118q21.31Cholestasis, benign recurrent intrahepatic243300
    Cholestasis, intrahepatic, of pregnancy, 1147480
    Cholestasis, progressive familial intrahepatic 1211600
    ATR3q23Cutaneous telangiectasia and cancer syndrome, familial614564
    Seckel syndrome 1210600
    ATRXXq21.1Alpha-thalassemia myelodysplasia syndrome, somatic300448
    Alpha-thalassemia/mental retardation syndrome301040
    Mental retardation-hypotonic facies syndrome, X-linked309580
    AUH9q22.313-methylglutaconic aciduria, type I250950
    B4GALT19p21.1Congenital disorder of glycosylation, type IId607091
    BCKDHA19q13.2Maple syrup urine disease, type Ia248600
    BCKDHB6q14.1Maple syrup urine disease, type Ib248600
    BCORXp11.4Microphthalmia, syndromic 2300166
    BCS1L2q35Bjornstad syndrome262000
    GRACILE syndrome603358
    Leigh syndrome256000
    Mitochondrial complex III deficiency, nuclear type 1124000
    BLM15q26.1Bloom syndrome210900
    BRWD3Xq21.1Mental retardation, X-linked 93300659
    BTD3p25.1Biotinidase deficiency253260
    BTKXq22.1Agammaglobulinemia and isolated hormone deficiency307200
    Agammaglobulinemia, X-linked 1300755
    C10orf210q24.31Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)271245
    Perrault syndrome 5
    CA28q21.2Osteopetrosis, autosomal recessive 3, with renal tubular acidosis259730
    CASKXp11.4FG syndrome 4300422
    Mental retardation and microcephaly with pontine and cerebellar hypoplasia300749
    Mental retardation, with or without nystagmus300422
    Non-Hodgkin lymphoma, somatic605027
    CBS21q22.3Homocystinuria, B6-responsive and nonresponsive types236200
    Thrombosis, hyperhomocysteinemic236200
    CD1916p11.2Immunodeficiency, common variable, 3613493
    CD2471q24.2Immunodeficiency 25610163
    CD3D11q23.3Immunodeficiency 19615617
    CD3E11q23.3Immunodeficiency 18615615
    Immunodeficiency 18, SCID variant615615
    CD3G11q23.3Immunodeficiency 17, CD3 gamma deficient615607
    CD40LGXq26.3Immunodeficiency, X-linked, with hyper-IgM308230
    CDH2310q22.1Deafness, autosomal recessive 12601386
    Usher syndrome, type 1D601067
    Usher syndrome, type 1D/F digenic601067
    CDKL5Xp22.13Angelman syndrome-like105830
    Epileptic encephalopathy, early infantile, 2300672
    CEP29012q21.32Bardet-Biedl syndrome 14615991
    Joubert syndrome 5610188
    Leber congenital amaurosis 10611755
    Meckel syndrome 4611134
    Senior-Loken syndrome 6610189
    CFPXp11.23Properdin deficiency, X-linked312060
    CFTR7q31.2Cystic fibrosis219700
    CHRNA12q31.1Multiple pterygium syndrome, lethal type253290
    Myasthenic syndrome, congenital, 1A, slow-channel601462
    Myasthenic syndrome, congenital, 1B, fast-channel608930
    CHRND2q37.1Myasthenic syndrome, congenital, 3A, slow-channel616321

    Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor

     

    deficiency

    616323
    Multiple pterygium syndrome, lethal type253290
    Myasthenic syndrome, congenital, 3B, fast-channel
    CHRNG2q37.1Escobar syndrome265000
    Multiple pterygium syndrome, lethal type253290
    CLCN5Xp11.23-p11.22Dent disease300009
    Hypophosphatemic rickets300554
    Nephrolithiasis, type I310468
    Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis308990
    CLCN716p13.3Osteopetrosis, autosomal dominant 2166600
    Osteopetrosis, autosomal recessive 4611490
    CLDN13q28Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis607626
    CLDN191p34.2Hypomagnesemia 5, renal, with ocular involvement248190
    CLN316p11.2Ceroid lipofuscinosis, neuronal, 3204200
    CLN513q22.3Ceroid lipofuscinosis, neuronal, 5256731
    CLN615q23Ceroid lipofuscinosis, neuronal, 6601780
    Ceroid lipofuscinosis, neuronal, Kufs type, adult onset204300
    CLN88p23.3Ceroid lipofuscinosis, neuronal, 8600143
    Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant610003
    CLRN13q25.1Retinitis pigmentosa 61614180
    Usher syndrome, type 3A276902
    COG117q25.1Congenital disorder of glycosylation, type IIg611209
    COG716p12.2Congenital disorder of glycosylation, type IIe608779
    COG816q22.1Congenital disorder of glycosylation, type IIh611182
    COL17A110q24.3-q25.1Epidermolysis bullosa, junctional, non-Herlitz type226650
    COL4A32q36.3Alport syndrome, autosomal dominant104200
    Alport syndrome, autosomal recessive203780
    Hematuria, benign familial141200
    COL4A2q36.3Alport syndrome, autosomal recessive203780
    Hematuria, familial benign
    COL4A5Xq22.3Alport syndrome301050
    COL7A13p21.31EBD inversa226600
    EBD, Bart type132000
    EBD, localisata variant
    Epidermolysis bullosa dystrophica, AD131750
    Epidermolysis bullosa dystrophica, AR226600
    Epidermolysis bullosa pruriginosa604129
    Epidermolysis bullosa, pretibial131850
    Toenail dystrophy, isolated607523
    Transient bullous of the newborn131705
    COQ24q21.23Coenzyme Q10 deficiency, primary, 1607426
    COQ916q21Coenzyme Q10 deficiency, primary, 5614654
    COX1017p12Leigh syndrome due to mitochondrial COX4 deficiency256000
    Mitochondrial complex IV deficiency220110
    COX1510q24.2

    Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase

     

    deficiency 2

    615119
    Leigh syndrome due to cytochrome c oxidase deficiency256000
    COX6B119q13.12Mitochondrial complex IV deficiency220110
    CPS12q34Carbamoylphosphate synthetase I deficiency237300
    CPT1A11q13.3CPT deficiency, hepatic, type IA255120
    CPT21p32.3CPT deficiency, hepatic, type II600649
    CPT II deficiency, lethal neonatal608836
    Myopathy due to CPT II deficiency255110
    CRLF119p13.11Cold-induced sweating syndrome 1272430
    CRTAP3p22.3Osteogenesis imperfecta, type VII610682
    CSTB21q22.3Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg)254800
    CTNS17p13.2Cystinosis, atypical nephropathic219800
    Cystinosis, late-onset juvenile or adolescent nephropathic219900
    Cystinosis, nephropathic219800
    Cystinosis, ocular nonnephropathic219750
    CTSD11p15.5Ceroid lipofuscinosis, neuronal, 10610127
    CTSK1q21.3Pycnodysostosis265800
    CUL4BXq24Mental retardation, X-linked, syndromic 15 (Cabezas type)300354
    CYP11A115q24.1Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete613743
    CYP11B18q24.3Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency202010
    Aldosteronism, glucocorticoid-remediable103900
    CYP17A110q24.3217,20-lyase deficiency, isolated202110
    17-alpha-hydroxylase/17,20-lyase deficiency202110
    CYP21A26p21.33Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency201910
    Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency201910
    CYP27A12q35Cerebrotendinous xanthomatosis213700
    CYP27B112q14.1Vitamin D-dependent rickets, type I264700
    DBT1p21.2Maple syrup urine disease, type II248600
    DCLRE1C10p13Omenn syndrome603554
    Severe combined immunodeficiency, Athabascan type602450
    DCXXq23Lissencephaly, X-linked300067
    Subcortical laminal heteropia, X-linked300067
    DDB211p11.2Xeroderma pigmentosum, group E, DDB-negative subtype278740
    DDC7p12.1Aromatic L-amino acid decarboxylase deficiency608643
    DGUOK2p13.1Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)251880
    DHCR241p32.3Desmosterolosis602398
    DHCR711q13.4Smith-Lemli-Opitz syndrome270400
    DKC1Xq28Dyskeratosis congenita, X-linked305000
    DLD31.1Dihydrolipoamide dehydrogenase deficiency246900
    DLG3Xq13.1Mental retardation, X-linked 90300850
    DLL319q13.2Spondylocostal dysostosis 1, autosomal recessive277300
    DMDXp21.2-p21.1Becker muscular dystrophy300376
    Cardiomyopathy, dilated, 3B302045
    Duchenne muscular dystrophy310200
    DMP14q22.1Hypophosphatemic rickets, AR241520
    DNAJC193q26.333-methylglutaconic aciduria, type V610198
    DNMT3B20q11.21Immunodeficiency-centromeric instability-facial anomalies syndrome 1242860
    DOCK89p24.3Hyper-IgE recurrent infection syndrome, autosomal recessive243700
    Mental retardation, autosomal dominant 2614113
    DOLK9q34.11Congenital disorder of glycosylation, type Im610768
    DPAGT111q23.3Congenital disorder of glycosylation, type Ij608093
    Myasthenic syndrome, congenital, 13, with tubular aggregates614750
    DPM120q13.13Congenital disorder of glycosylation, type Ie608799
    DPYD1p21.3Dihydropyrimidine dehydrogenase deficiency274270
    DSP6p24.3Arrhythmogenic right ventricular dysplasia 8607450
    Cardiomyopathy, dilated, with woolly hair and keratoderma605676
    Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis615821
    Epidermolysis bullosa, lethal acantholytic609638
    Keratosis palmoplantaris striata II612908
    Skin fragility-woolly hair syndrome607655
    DYNC2H111q22.3Short-rib thoracic dysplasia 3 with or without polydactyly613091
    EDAXq13.1Ectodermal dysplasia 1, hypohidrotic, X-linked305100
    Tooth agenesis, selective, X-linked 1313500
    EDN320q13.32Central hypoventilation syndrome, congenital209880
    Waardenburg syndrome, type 4B613265
    EDNRB13q22.3ABCD syndrome600501
    Waardenburg syndrome, type 4A277580
    EFEMP211q13.1Cutis laxa, autosomal recessive, type IB614437
    EFNB1Xq13.1Craniofrontonasal dysplasia304110
    EGR210q21.3Charcot-Marie-Tooth disease, type 1D607678
    Dejerine-Sottas disease145900
    Neuropathy, congenital hypomyelinating, 1605253
    EIF2AK32p11.2Wolcott-Rallison syndrome226980
    ENPP16q23.2Arterial calcification, generalized, of infancy, 1208000
    Cole disease615522
    Hypophosphatemic rickets, autosomal recessive, 2613312
    Diabetes mellitus, non-insulin-dependent, susceptibility to125853
    Obesity, susceptibility to601665
    EPM2A6q24.3Epilepsy, progressive myoclonic 2A (Lafora)254780
    ERBB312q13.2Lethal congenital contractural syndrome 2607598
    ERCC219q13.32Cerebrooculofacioskeletal syndrome 2610756
    Trichothiodystrophy 1, photosensitive601675
    Xeroderma pigmentosum, group D278730
    ERCC32q14.3Trichothiodystrophy 2, photosensitive616390
    Xeroderma pigmentosum, group B610651
    ERCC416p13.12Fanconi anemia, complementation group Q610965
    Xeroderma pigmentosum, group F278760
    Xeroderma pigmentosum, type F/Cockayne syndrome278760
    XFE progeroid syndrome610965
    ERCC53q33.1Xeroderma pigmentosum, group G278780
    Xeroderma pigmentosum, group G/Cockayne syndrome278780
    ERCC610q11.23Cerebrooculofacioskeletal syndrome 1214150
    Cockayne syndrome, type B133540
    De Sanctis-Cacchione syndrome278800
    UV-sensitive syndrome 1600630
    Macular degeneration, age-related, susceptibility to 5613761
    ERCC85q12.1Cockayne syndrome, type A216400
    UV-sensitive syndrome 2614621
    ESCO28p21.1Roberts syndrome268300
    SC phocomelia syndrome269000
    ETFA15q24.2-q24.3Glutaric acidemia IIA231680
    ETFB19q13.41Glutaric acidemia IIB231680
    ETFDH4q32.1Glutaric acidemia IIC231680
    ETHE119q13.31Ethylmalonic encephalopathy602473
    EVC4p16.2Ellis-van Creveld syndrome225500
    Weyers acrodental dysostosis193530
    EVC24p16.2Ellis-van Creveld syndrome225500
    Weyers acrofacial dysostosis193530
    F8Xq28Hemophilia A306700
    F9Xq27.1Hemophilia B306900
    Thrombophilia, X-linked, due to factor IX defect300807
    Deep venous thrombosis, protection against300807
    Warfarin sensitivity122700
    FAH15q25.1Tyrosinemia, type I276700
    FAM126A7p15.3Leukodystrophy, hypomyelinating, 5610532
    FAM20C7p22.3Raine syndrome259775
    FANCC9q22.32Fanconi anemia, complementation group C227645
    FAS10q23.31Autoimmune lymphoproliferative syndrome, type IA601859
    Squamous cell carcinoma, burn scar-related, somatic
    Autoimmune lymphoproliferative syndrome601859
    FASLG1q24.3Autoimmune lymphoproliferative syndrome, type IB601859
    FASTKD22q33.3Mitochondrial complex IV deficiency220110
    FBLN514q32.12Cutis laxa, autosomal recessive, type IA219100
    FERMT311q13.1Leukocyte adhesion deficiency, type III612840
    FGA4q31.3Afibrinogenemia, congenital202400
    Amyloidosis, familial visceral105200
    Dysfibrinogenemia, congenital616004
    Hypodysfibrinogenemia, congenital616004
    FGD1Xp11.22Aarskog-Scott syndrome305400
    Mental retardation, X-linked syndromic 16305400
    FGD412p11.21Charcot-Marie-Tooth disease, type 4H609311
    FH19p13.2Hypercholesterolemia, familial143890
    LDL cholesterol level QTL2143890
    FKRP19q13.32

    Muscular dystrophy-dystroglycanopathy (congenital with brain and eye

     

    anomalies), type A, 5

    613153
    Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5606612
    Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5607155
    FKTN9q31.2Cardiomyopathy, dilated, 1X611615

    Muscular dystrophy-dystroglycanopathy (congenital with brain and eye

     

    anomalies), type A, 4

    253800

    Muscular dystrophy-dystroglycanopathy (congenital without mental

     

    retardation), type B, 4

    613152
    Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4611588
    FOLR111q13.4Neurodegeneration due to cerebral folate transport deficiency613068
    FOXG114q12Rett syndrome, congenital variant613454
    FOXN117q11.2T-cell immunodeficiency, congenital alopecia, and nail dystrophy601705
    FOXP3Xp11.23Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked304790
    Diabetes mellitus, type I, susceptibility to222100
    FRAS14q21.21Fraser syndrome219000
    FREM213q13.3Fraser syndrome219000
    FTSJ1Xp11.23Mental retardation, X-linked 9309549
    FUCA11p36.11Fucosidosis230000
    G6PC317q21.31Dursun syndrome612541
    Neutropenia, severe congenital 4, autosomal recessive612541
    G6PDXq28Favism134700
    Hemolytic anemia due to G6PD deficiency300908
    Resistance to malaria due to G6PD deficiency611162
    GAA17q25.3Glycogen storage disease II232300
    GALC14q31.3Krabbe disease245200
    GALK117q25.1Galactokinase deficiency with cataracts230200
    GALT9p13.3Galactosemia230400
    GAMT19p13.3Cerebral creatine deficiency syndrome 2612736
    GBA1q22Gaucher disease, perinatal lethal608013
    Gaucher disease, type I230800
    Gaucher disease, type II230900
    Gaucher disease, type III231000
    Gaucher disease, type IIIC231005
    Lewy body dementia, susceptibility to127750
    Parkinson disease, late-onset, susceptibility to168600
    GBE13p12.2Glycogen storage disease IV232500
    Polyglucosan body disease, adult form263570
    GCDH19p13.2Glutaricaciduria, type I231670
    GCSH16q23.2Glycine encephalopathy605899
    GDAP18q21.11Charcot-Marie-Tooth disease, axonal, type 2K607831
    Charcot-Marie-Tooth disease, axonal, with vocal cord paresis607706
    Charcot-Marie-Tooth disease, recessive intermediate, A608340
    Charcot-Marie-Tooth disease, type 4A214400
    GDI1Xq28Mental retardation, X-linked 41300849
    GFM13q25.32Combined oxidative phosphorylation deficiency 1609060
    GJB213q12.11Bart-Pumphrey syndrome149200
    Deafness, autosomal dominant 3A601544
    Deafness, autosomal recessive 1A220290
    Hystrix-like ichthyosis with deafness602540
    Keratitis-ichthyosis-deafness syndrome148210
    Keratoderma, palmoplantar, with deafness148350
    Vohwinkel syndrome124500
    GJC21q42.13Leukodystrophy, hypomyelinating, 2608804
    Lymphedema, hereditary, IC613480
    Spastic paraplegia 44, autosomal recessive613206
    GLAXq22.1Fabry disease301500
    Fabry disease, cardiac variant301500
    GLB13p22.3GM1-gangliosidosis, type I230500
    GM1-gangliosidosis, type II230600
    GM1-gangliosidosis, type III230650
    Mucopolysaccharidosis type IVB (Morquio)253010
    GLDC9p24.1Glycine encephalopathy605899
    GLE19q34.11Arthrogryposis, lethal, with anterior horn cell disease611890
    Lethal congenital contracture syndrome 1253310
    GNPTAB12q23.2Mucolipidosis II alpha/beta252500
    Mucolipidosis III alpha/beta252600
    GNRHR4q13.2Hypogonadotropic hypogonadism 7 without anosmia146110
    GPC3Xq26.2Simpson-Golabi-Behmel syndrome, type 1312870
    Wilms tumor, somatic194070
    GPR985q14.3Febrile seizures, familial, 4604352
    Usher syndrome, type 2C605472
    Usher syndrome, type 2C, GPR98/PDZD7 digenic605472
    GRIK26q16.3Mental retardation, autosomal recessive, 6611092
    GSS20q11.22Glutathione synthetase deficiency266130
    Hemolytic anemia due to glutathione synthetase deficiency231900
    GTF2H56q25.3Trichothiodystrophy 3, photosensitive616395
    GUSB7q11.21Mucopolysaccharidosis VII253220
    HADH4q253-hydroxyacyl-CoA dehydrogenase deficiency231530
    Hyperinsulinemic hypoglycemia, familial, 4609975
    HADHA2p23.3Fatty liver, acute, of pregnancy609016
    HELLP syndrome, maternal, of pregnancy609016
    LCHAD deficiency609016
    Trifunctional protein deficiency609015
    HADHB2p23.3Trifunctional protein deficiency609015
    HAMP19q13.12Hemochromatosis, type 2B613313
    HAX11q21.3Neutropenia, severe congenital 3, autosomal recessive610738
    HBA116p13.3Erythremias, alpha-141800
    Heinz body anemias, alpha-140700
    Hemoglobin H disease, nondeletional613978
    Methemoglobinemias, alpha-141800
    Thalassemias, alpha-604131
    HBB11p15.4Delta-beta thalassemia141749
    Erythremias, beta-141800
    Heinz body anemias, beta-140700
    Hereditary persistence of fetal hemoglobin141749
    Methemoglobinemias, beta-141900
    Sickle cell anemia603903
    Thalassemias, beta-613985
    HESX13p14.3Growth hormone deficiency with pituitary anomalies182230
    Pituitary hormone deficiency, combined, 5182230
    Septooptic dysplasia182230
    HEXA15q23GM2-gangliosidosis, several forms272800
    Tay-Sachs disease272800
    Hex A pseudodeficiency272800
    HEXB5q13.3Sandhoff disease, infantile, juvenile, and adult forms268800
    HFE21q21.1Hemochromatosis, type 2A602390
    HGSNAT8p11.21Mucopolysaccharidosis type IIIC (Sanfilippo C)252930
    HIBCH2q32.23-hydroxyisobutryl-CoA hydrolase deficiency250620
    HLCS21q22.13Holocarboxylase synthetase deficiency253270
    HMGCL1p36.11HMG-CoA lyase deficiency246450
    HP12q24.31Hawkinsinuria140350
    Tyrosinemia, type III276710
    HPRTXq26.2-q26.3KELLEY-SEEGMILLER SYNDROME300323
    Lesch-Nyhan syndrome300322
    HSD11B216q22.1Apparent mineralocorticoid excess218030
    HSD17B10Xp11.2217-beta-hydroxysteroid dehydrogenase X deficiency300438
    Mental retardation, X-linked syndromic 10300220
    HSD17B39q22.32Pseudohermaphroditism, male, with gynecomastia264300
    HSD17B45q23.1D-bifunctional protein deficiency261515
    Perrault syndrome 1233400
    HSD3B21p123-beta-hydroxysteroid dehydrogenase, type II, deficiency201810
    HSPG21p36.12Dyssegmental dysplasia, Silverman-Handmaker type224410
    Schwartz-Jampel syndrome, type 1255800
    HUWE1Xp11.22Mental retardation, X-linked syndromic, Turner type300706
    ICOS2q33.2Immunodeficiency, common variable, 1607594
    IDSXq28Mucopolysaccharidosis II309900
    IDUA4p16.3Mucopolysaccharidosis Ih ( Hurler Syndrome)607014
    Mucopolysaccharidosis Ih/s ( HURLER-SCHEIE SYNDROME)607015
    Mucopolysaccharidosis Is (SCHEIE SYNDROME)607016
    IFNGR16q23.3Immunodeficiency 27A, mycobacteriosis, AR209950
    Immunodeficiency 27B, mycobacteriosis, AD615978
    IFNGR221q22.11Immunodeficiency 28, mycobacteriosis614889
    IFT803q25.33Short-rib thoracic dysplasia 2 with or without polydactyly611263
    IGHMBP211q13.3Charcot-Marie-Tooth disease, axonal, type 2S616155
    Neuronopathy, distal hereditary motor, type VI604320
    IKBKAP9q31.3Dysautonomia, familial223900
    IKBKGXq28Ectodermal dysplasia, hypohidrotic, with immune deficiency300291
    Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency300301
    Immunodeficiency 33300636
    Immunodeficiency, isolated300584
    Incontinentia pigmenti308300
    IL12B5q33.3Immunodeficiency 29, mycobacteriosis614890
    IL12RB119p13.11Immunodeficiency 30614891
    IL1RAPL1Xp21.3-p21.2Mental retardation, X-linked 21/34300143
    IL1RN2q13Interleukin 1 receptor antagonist deficiency612852
    Microvascular complications of diabetes 4612628
    IL2RXq13.1Combined immunodeficiency, X-linked, moderate312863
    Severe combined immunodeficiency, X-linked300400
    INSR19p13.2Diabetes mellitus, insulin-resistant, with acanthosis nigricans610549
    Hyperinsulinemic hypoglycemia, familial, 5609968
    Leprechaunism246200
    Rabson-Mendenhall syndrome262190
    INVS9q31.1Nephronophthisis 2, infantile602088
    IQCB13q13.33Senior-Loken syndrome 5609254
    ITGA62q31.1Epidermolysis bullosa, junctional, with pyloric stenosis226730
    ITGB417q25.1Epidermolysis bullosa of hands and feet131800
    Epidermolysis bullosa, junctional, non-Herlitz type226650
    Epidermolysis bullosa, junctional, with pyloric atresia226730
    IVD15q15.1Isovaleric acidemia243500
    JAK319p13.11SCID, autosomal recessive, T-negative/B-positive type600802
    KCNJ111q24.3Bartter syndrome, type 2241200
    KDM5CXp11.22Mental retardation, X-linked, syndromic, Claes-Jensen type300534
    L1CAMXq28Corpus callosum, partial agenesis of304100
    CRASH syndrome303350
    Hydrocephalus due to aqueductal stenosis307000
    Hydrocephalus with congenital idiopathic intestinal pseudoobstruction307000
    Hydrocephalus with Hirschsprung disease307000
    MASA syndrome303350
    LAMA26q22.33Muscular dystrophy, congenital merosin-deficient607855
    Muscular dystrophy, congenital, due to partial LAMA2 deficiency607855
    LAMA318q11.2Epidermolysis bullosa, generalized atrophic benign226650
    Epidermolysis bullosa, junctional, Herlitz type226700
    Laryngoonychocutaneous syndrome245660
    LAMB23p21.31Nephrotic syndrome, type 5, with or without ocular abnormalities614199
    Pierson syndrome609049
    LAMB31q32.2Amelogenesis imperfecta, type IA104530
    Epidermolysis bullosa, junctional, Herlitz type226700
    Epidermolysis bullosa, junctional, non-Herlitz type226650
    LAMC21q25.3Epidermolysis bullosa, junctional, Herlitz type226700
    Epidermolysis bullosa, junctional, non-Herlitz type226650
    LARGE22q12.3

    Muscular dystrophy-dystroglycanopathy (congenital with brain and eye

     

    anomalies), type A, 6

    613154

    Muscular dystrophy-dystroglycanopathy (congenital with mental

     

    retardation), type B, 6

    608840
    LBR1q42.12Reynolds syndrome613471
    Greenberg skeletal dysplasia215140
    Pelger-Huet anomaly169400
    LEPRE11p34.2Osteogenesis imperfecta, type VIII610915
    LHCGR2p16.3Leydig cell adenoma, somatic, with precocious puberty176410
    Leydig cell hypoplasia with hypergonadotropic hypogonadism238320
    Leydig cell hypoplasia with pseudohermaphroditism238320
    Luteinizing hormone resistance, female238320
    Precocious puberty, male176410
    LHX39q34.3Pituitary hormone deficiency, combined, 3221750
    LIFR5p13.1Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome601559
    LIG413q33.3LIG4 syndrome606593
    LRP22q31.1Donnai-Barrow syndrome222448
    LRPPRC2p21Leigh syndrome, French-Canadian type220111
    LYST1q42.3Chediak-Higashi syndrome214500
    MAN2B119p13.2Mannosidosis, alpha-, types I and II248500
    MBTPS2Xp22.12-p22.11Olmsted syndrome, X-linked300918
    IFAP syndrome with or without BRESHECK syndrome308205
    Keratosis follicularis spinulosa decalvans, X-linked308800
    MCOLN119p13.2Mucolipidosis IV252650
    MECP2Xq28Angelman syndrome105830
    Encephalopathy, neonatal severe300673
    Mental retardation, X-linked syndromic, Lubs type300260
    Mental retardation, X-linked, syndromic 13300055
    Rett syndrome312750
    Rett syndrome, preserved speech variant312750
    Autism susceptibility, X-linked 3300496
    MED12Xq13.1Lujan-Fryns syndrome309520
    Ohdo syndrome, X-linked300895
    Opitz-Kaveggia syndrome305450
    MEFV16p13.3Familial Mediterranean fever, AD134610
    Familial Mediterranean fever, AR249100
    MFSD84q28.2Ceroid lipofuscinosis, neuronal, 7610951
    Macular dystrophy with central cone involvement616170
    MGAT214q21.3Congenital disorder of glycosylation, type IIa212066
    MID1Xp22.2Opitz GBBB syndrome, type I300000
    MKS117q22Bardet-Biedl syndrome 13615990
    Meckel syndrome 1249000
    MLC122q13.33Megalencephalic leukoencephalopathy with subcortical cysts604004
    MMAA4q31.21Methylmalonic aciduria, vitamin B12-responsive251100
    MMAB12q24.11

    Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis

     

    of adenosylcobalamin, cblB complementation type

    251110
    MMACHC1p34.1Methylmalonic aciduria and homocystinuria, cblC type277400
    MOCS16p21.2Molybdenum cofactor deficiency A252150
    MOCS25q11.2Molybdenum cofactor deficiency B252160
    MOGS2p13.1Congenital disorder of glycosylation, type IIb606056
    MPDU117p13.1Congenital disorder of glycosylation, type If609180
    MPI15q24.1Congenital disorder of glycosylation, type Ib602579
    MPL1p34.2Myelofibrosis with myeloid metaplasia, somatic254450
    Thrombocythemia 2601977
    Thrombocytopenia, congenital amegakaryocytic604498
    MPV172p23.3Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)256810
    MPZ1q23.3Charcot-Marie-Tooth disease, dominant intermediate D607791
    Charcot-Marie-Tooth disease, type 1B118200
    Charcot-Marie-Tooth disease, type 2I607677
    Charcot-Marie-Tooth disease, type 2J607736
    Dejerine-Sottas disease145900
    Neuropathy, congenital hypomyelinating605253
    Roussy-Levy syndrome180800
    MRPS1610q22.2Combined oxidative phosphorylation deficiency 2610498
    MRPS223q23Combined oxidative phosphorylation deficiency 5611719
    MTM1Xq28Myotubular myopathy, X-linked310400
    MUT6p12.3Methylmalonic aciduria, mut(0) type251000
    MVK12q24.11Hyper-IgD syndrome260920
    Mevalonic aciduria610377
    Porokeratosis 3, disseminated superficial actinic175900
    MYD883p22.2Macroglobulinemia, Waldenstrom, somatic153600
    Pyogenic bacterial infections, recurrent, due to MYD88 deficiency612260
    MYO5A15q21.2Griscelli syndrome, type 1214450
    MYO7A11q13.5Deafness, autosomal dominant 11601317
    Deafness, autosomal recessive 2600060
    Usher syndrome, type 1B276900
    NAGLU17q21.2Mucopolysaccharidosis type IIIB (Sanfilippo B)252920
    NAGS17q21.31N-acetylglutamate synthase deficiency237310
    NBN8q21.3Aplastic anemia609135
    Leukemia, acute lymphoblastic613065
    Nijmegen breakage syndrome251260
    NDPXp11.3Exudative vitreoretinopathy 2, X-linked305390
    Norrie disease310600
    NDUFA1Xq24Mitochondrial complex I deficiency252010
    NDUFA719p13.3Mitochondrial Complex 1 Deficiency (MT-C1D)252010
    NDUFAF5q12.1Leigh syndrome256000
    NDUFAF46q16.1Mitochondrial complex I deficiency252010
    NDUFS311p11.2Leigh syndrome due to mitochondrial complex I deficiency256000
    Mitochondrial complex I deficiency252010
    NDUFS45q11.2Leigh syndrome256000
    Mitochondrial complex I deficiency252010
    NDUFS51p34.3Mitochondrial complex I deficiency252010
    NDUFS65p15.33Complex I, mitochondrial respiratory chain, deficiency of252010
    NDUFS719p13.3Leigh syndrome256000
    NDUFS811q13.2Leigh syndrome due to mitochondrial complex I deficiency256000
    NDUFV111q13.2Mitochondrial complex I deficiency252010
    NEB2q23.3Nemaline myopathy 2, autosomal recessive256030
    NEU16p21.33Sialidosis, type I256550
    Sialidosis, type II256550
    NEUROG310q22.1Diarrhea 4, malabsorptive, congenital610370
    NHEJ12q35

    Severe combined immunodeficiency with microcephaly, growth retardation,

     

    and sensitivity to ionizing radiation

    611291
    NHLRC16p22.3Epilepsy, progressive myoclonic 2B (Lafora)254780
    NHSXp22.13Cataract 40, X-linked302200
    Nance-Horan syndrome302350
    NLGN4XXp22.32-p22.31Mental retardation, X-linked300495
    Asperger syndrome susceptibility, X-linked 2300497
    Autism susceptibility, X-linked 2300495
    NPC118q11.2Niemann-Pick disease, type C1257220
    Niemann-Pick disease, type D257220
    NPC214q24.3Niemann-pick disease, type C2607625
    NPHP12q13Joubert syndrome 4609583
    Nephronophthisis 1, juvenile256100
    Senior-Loken syndrome-1266900
    NPHP33q22.1Meckel syndrome 7267010
    Nephronophthisis 3604387
    Renal-hepatic-pancreatic dysplasia 1208540
    NPHP41p36.31Nephronophthisis 4606966
    Senior-Loken syndrome 4606996
    NPHS119q13.12Nephrotic syndrome, type 1256300
    NPHS21q25.2Nephrotic syndrome, type 2600995
    NR5A19q33.346XY sex reversal 3612965
    Adrenocortical insufficiency
    Premature ovarian failure 7612964
    Spermatogenic failure 8613957
    NSD15q35.2-q35.3Beckwith-Wiedemann syndrome130650
    Leukemia, acute myeloid601626
    Sotos syndrome 1117550
    NSUN25p15.31Mental retardation, autosomal recessive 5611091
    NTRK11q23.1Insensitivity to pain, congenital, with anhidrosis256800
    NUP6219q13.33Striatonigral degeneration, infantile271930
    NXF5Xq22.1Nuclear RNA export factor 5300319
    OCRLXq25-q26Dent disease 2300555
    Lowe syndrome309000
    OFD1Xp22.2Retinitis pigmentosa 23300424
    Joubert syndrome 10300804
    Orofaciodigital syndrome I311200
    Simpson-Golabi-Behmel syndrome, type 2300209
    OPA319q13.32Optic atrophy 3 with cataract165300
    OPHN1Xq12

    Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial

     

    appearance

    300486
    ORAI112q24.31Immunodeficiency 9612782
    Myopathy, tubular aggregate, 2615883
    OSTM16q21Osteopetrosis, autosomal recessive 5259720
    OTCXp11.4Ornithine transcarbamylase deficiency311250
    PAH12q23.2Phenylketonuria261600
    PAK3Xq23Mental retardation, X-linked 30/47300558
    PANK220p13HARP syndrome607236
    PC11q13.2Pyruvate carboxylase deficiency266150
    PCCA13q32.3Propionicacidemia606054
    PCCB3q22.3Propionicacidemia606054
    PCDH19Xq22.1Epileptic encephalopathy, early infantile, 9300088
    PDHA1Xp22.12Pyruvate dehydrogenase E1-alpha deficiency312170
    PDHX11p13Lacticacidemia due to PDX1 deficiency245349
    PDP18q22.1Pyruvate dehydrogenase phosphatase deficiency608782
    PDSS110p12.1Coenzyme Q10 deficiency, primary, 2614651
    PDSS26q21Coenzyme Q10 deficiency, primary, 3614652
    PEX17q21.2Peroxisome biogenesis disorder 1A (Zellweger)214100
    Peroxisome biogenesis disorder 1B (NALD/IRD)601539
    PEX101p36.32Peroxisome biogenesis disorder 6A (Zellweger)614870
    Peroxisome biogenesis disorder 6B614871
    PEX1217q12Peroxisome biogenesis disorder 3A (Zellweger614859
    Peroxisome biogenesis disorder 3B266510
    PEX132p16.1Peroxisome biogenesis disorder 11A (Zellweger614883
    Peroxisome biogenesis disorder 11 B614885
    PEX2622q11.21Peroxisome biogenesis disorder 7A (Zellweger)614872
    Peroxisome biogenesis disorder 7B614873
    PEX53q26.33Peroxisome biogenesis disorder 7B611058
    PEX76q23.3Peroxisome biogenesis disorder 9B614879
    Rhizomelic chondrodysplasia punctata, type 1215100
    PKHD16p12.3-p12.2Polycystic kidney and hepatic disease263200
    PKLR1q22Adenosine triphosphate, elevated, of erythrocytes102900
    Pyruvate kinase deficiency266200
    PLA2G622q13.1Infantile neuroaxonal dystrophy 1256600
    Neurodegeneration with brain iron accumulation 2B610217
    Parkinson disease 14, autosomal recessive612953
    PLCE110q23.33Nephrotic syndrome, type 3610725
    PLDN15q21.1Hermansky-pudlak syndrome 9614171
    PLEC8q24.3Epidermolysis bullosa simplex with pyloric atresia612138
    Epidermolysis bullosa simplex, Ogna type131950
    Muscular dystrophy with epidermolysis bullosa simplex226670
    Muscular dystrophy, limb-girdle, type 2Q613723
    PLEKHG51p36.31Charcot-Marie-Tooth disease, recessive intermediate C615376
    Spinal muscular atrophy, distal, autosomal recessive, 4611067
    PLG6q26Dysplasminogenemia217090
    Plasminogen deficiency, type I217090
    PLOD11p36.22Ehlers-Danlos syndrome, type VI225400
    PLP1Xq22.2Pelizaeus-Merzbacher disease312080
    Spastic paraplegia 2, X-linked312920
    PMM216p13.2Congenital disorder of glycosylation, type Ia212065
    PMP2217p12Charcot-Marie-Tooth disease, type 1A118220
    Charcot-Marie-Tooth disease, type 1E118300
    Dejerine-Sottas disease145900
    Neuropathy, inflammatory demyelinating139393
    Neuropathy, recurrent, with pressure palsies162500
    Roussy-Levy syndrome180800
    PNPO17q21.32Pyridoxamine 5′-phosphate oxidase deficiency610090
    POLG15q26.1Mitochondrial DNA depletion syndrome 4A (Alpers type)203700
    Mitochondrial DNA depletion syndrome 4B (MNGIE type)613662
    Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE)607459
    Progressive external ophthalmoplegia, autosomal recessive258450
    POMGNT11p34.1Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3253280

    Muscular dystrophy-dystroglycanopathy (congenital with mental

     

    retardation), type B, 3

    613151
    Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3613157
    POMT19q34.13

    Muscular dystrophy-dystroglycanopathy (congenital with brain and eye

     

    anomalies), type A, 1

    236670
    Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1613155
    Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1609308
    POMT214q24.3Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2613150

    Muscular dystrophy-dystroglycanopathy (congenital with mental

     

    retardation), type B, 2

    613156
    Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2613158
    POR7q11.23

    Antley-Bixler syndrome with genital anomalies and disordered

     

    steroidogenesis

    201750
    Disordered steroidogenesis due to cytochrome P450 oxidoreductase613571
    POU1F13p11.2Pituitary hormone deficiency, combined, 1613038
    PPT11p34.2Ceroid lipofuscinosis, neuronal, 1256730
    PQBP1Xp11.23Renpenning syndrome309500
    PRF110q22.1Hemophagocytic lymphohistiocytosis, familial, 2603553
    Lymphoma, non-Hodgkin605027
    PROP15q35.3Pituitary hormone deficiency, combined, 2262600
    PRPS1Xq22.3Arts syndrome301835
    Charcot-Marie-Tooth disease, X-linked recessive, 5311070
    Deafness, X-linked 1304500
    Gout, PRPS-related300661
    Phosphoribosylpyrophosphate synthetase superactivity300661
    PRSS124q26Mental retardation, autosomal recessive 1249500
    PRX19q13.2Charcot-Marie-Tooth disease, type 4F614895
    Dejerine-Sottas disease145900
    PSAP10q22.1Combined SAP deficiency611721
    Gaucher disease, atypical610539
    Krabbe disease, atypical611722
    Metachromatic leukodystrophy due to SAP-b deficiency249900
    PTEN10q23.31Bannayan-Riley-Ruvalcaba syndrome153480
    Cowden syndrome 1158350
    Lhermitte-Duclos syndrome158350
    Macrocephaly/autism syndrome605309
    VATER association with macrocephaly and ventriculomegaly276950
    PTH1R3p21.31Chondrodysplasia, Blomstrand type215045
    Eiken syndrome600002
    Failure of tooth eruption, primary125350
    Metaphyseal chondrodysplasia, Murk Jansen type156400
    PYGM11q13.1McArdle disease232600
    RAB236p11.2Carpenter syndrome201000
    RAB27A15q21.3Griscelli syndrome, type 2607624
    RAB39BXq28Waisman syndrome311510
    Mental retardation, X-linked 72300271
    RAB3GAP12q21.3Warburg micro syndrome 1600118
    RAB3GAP21q41Martsolf syndrome212720
    Warburg micro syndrome 2614225
    RAG111p12Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion..609889
    Combined cellular and humoral immune defects with granulomas233650
    Omenn syndrome603554
    Severe combined immunodeficiency, B cell-negative601457
    RAG211p12Combined cellular and humoral immune defects with granulomas233650
    Omenn syndrome603554
    Severe combined immunodeficiency, B cell-negative601457
    RAPSN11p11.2Fetal akinesia deformation sequence208150
    Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency616326
    RELN7q22.1Lissencephaly 2 (Norman-Roberts type)257320
    Epilepsy, familial temporal lobe, 7616436
    RFT13p21.1Congenital disorder of glycosylation, type In612015
    RMRP9p13.3Anauxetic dysplasia607095
    Cartilage-hair hypoplasia250250
    Metaphyseal dysplasia without hypotrichosis250460
    RNASEH2A19p13.2Aicardi-Goutieres syndrome 4610333
    RNASEH2B13q14.3Aicardi-Goutieres syndrome 2610181
    RNASEH2C11q13.1Aicardi-Goutieres syndrome 3610329
    RPGRIP1L16q12.2COACH syndrome216360
    Joubert syndrome 7611560
    Meckel syndrome 5611561
    RPL10Xq28Autism, susceptibility to, X-linked 5300847
    RPS6KA3Xp22.12Coffin-Lowry syndrome303600
    Mental retardation, X-linked 19300844
    RRM2B8q22.3

    Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with

     

    renal tubulopathy)

    612075
    Mitochondrial DNA depletion syndrome 8B (MNGIE type)612075
    SACS13q12.12Spastic ataxia, Charlevoix-Saguenay type270550
    SAMHD120q11.23Aicardi-Goutieres syndrome 5612952
    Chilblain lupus 2614415
    SBDS7q11.21Shwachman-Bodian-Diamond syndrome260400
    SC5DL11q23.3Lathosterolosis607330
    SCNN1A12p13.31Bronchiectasis with or without elevated sweat chloride 2613021
    Pseudohypoaldosteronism, type I264350
    SCNN1B16p12.2Bronchiectasis with or without elevated sweat chloride 1211400
    Liddle syndrome177200
    Pseudohypoaldosteronism, type I264350
    SCNN1G16p12.2Bronchiectasis with or without elevated sweat chloride 3613071
    Liddle syndrome177200
    Pseudohypoaldosteronism, type I264350
    SCO117p13.1Hepatic failure, early onset, and neurologic disorder603644
    SCO222q13.33

    Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase

     

    deficiency 1

    604377
    Myopia 6608908
    SEPN11p36.11Muscular dystrophy, rigid spine, 1602771
    Myopathy, congenital, with fiber-type disproportion255310
    SFTPB2p11.2Surfactant metabolism dysfunction, pulmonary, 1265120
    SFTPC8p21.3Surfactant metabolism dysfunction, pulmonary, 2610913
    SGSH17q25.3Mucopolysaccharidisis type IIIA (Sanfilippo A)252900
    SH2D1AXq25Lymphoproliferative syndrome, X-linked, 1308240
    SHROOM4Xp11.22Stocco dos Santos X-linked mental retardation syndrome300434
    SIL15q31.2Marinesco-Sjogren syndrome248800
    SLC12A115q21.1Bartter syndrome, type 1601678
    SLC12A615q14Agenesis of the corpus callosum with peripheral neuropathy218000
    SLC16A2Xq13.2Allan-Herndon-Dudley syndrome300523
    SLC17A56q13Salla disease604369
    Sialic acid storage disorder, infantile269920
    SLC22A55q31.1Carnitine deficiency, systemic primary212140
    SLC25A1513q14.11Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome238970
    SLC25A203p21.31Carnitine-acylcarnitine translocase deficiency212138
    SLC25A2211p15.5Epileptic encephalopathy, early infantile, 3609304
    SLC26A25q32Achondrogenesis Ib600972
    Atelosteogenesis II256050
    De la Chapelle dysplasia256050
    Diastrophic dysplasia222600
    Diastrophic dysplasia, broad bone-platyspondylic variant222600
    Epiphyseal dysplasia, multiple, 4226900
    SLC35A16q15Congenital disorder of glycosylation, type IIf603585
    SLC35C111p11.2Congenital disorder of glycosylation, type IIc266265
    SLC35D11p31.3Schneckenbecken dysplasia269250
    SLC37A411q23.3Glycogen storage disease Ib232220
    Glycogen storage disease Ic232240
    SLC4A1120p13Corneal dystrophy, Fuchs endothelial, 4613268
    Corneal endothelial dystrophy 2, autosomal recessive217700
    Corneal endothelial dystrophy and perceptive deafness217400
    SLC6A8Xq28Cerebral creatine deficiency syndrome 1300352
    SLC9A6Xq26.3Mental retardation, X-linked syndromic, Christianson type300243
    SMN15q13.2Spinal muscular atrophy-1253300
    Spinal muscular atrophy-2253550
    Spinal muscular atrophy-3253400
    Spinal muscular atrophy-4271150
    SMPD111p15.4Niemann-Pick disease, type A257200
    Niemann-Pick disease, type B607616
    SMSXp22.11Mental retardation, X-linked, Snyder-Robinson type309583
    SNAP2922q11.21Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma609528
    SOX3Xq27.1Mental retardation, X-linked, with isolated growth hormone deficiency300123
    Panhypopituitarism, X-linked312000
    SP1102q37.1Hepatic venoocclusive disease with immunodeficiency235550
    SRD5A22p23.1Pseudovaginal perineoscrotal hypospadias264600
    SRD5A34q12Congenital disorder of glycosylation, type Iq612379
    Kahrizi syndrome612713
    ST3GAL31p34.1Epileptic encephalopathy, early infantile, 15615006
    Mental retardation, autosomal recessive 12611090
    ST3GAL52p11.2Amish infantile epilepsy syndrome609056
    STAR8p11.23Lipoid adrenal hyperplasia201710
    STAT12q32.2Immunodeficiency 31B, mycobacterial and viral infections, autosomal reces.613796
    STIM111p15.4Immunodeficiency 10612783
    Myopathy, tubular aggregate, 1160565
    Stormorken syndrome185070
    STRA615q24.1Microphthalmia, isolated, with coloboma 8601186
    Microphthalmia, syndromic 9601186
    STX116q24.2Hemophagocytic lymphohistiocytosis, familial, 4603552
    STXBP219p13.2Hemophagocytic lymphohistiocytosis, familial, 5613101
    SUCLA213q14.2

    Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or

     

    without methylmalonic aciduria)

    612073
    SUCLG12p11.2Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)245400
    SUOX12q13.2Sulfite oxidase deficiency272300
    SURF19q34.2Leigh syndrome, due to COX deficiency256000
    SYPXp11.23Mental retardation, X-linked 96300802
    TAT16q22.2Tyrosinemia, type II276600
    TAZXq28Barth syndrome302060
    TBCE1q42.3Hypoparathyroidism-retardation-dysmorphism syndrome241410
    Kenny-Caffey syndrome-1244460
    TCF418q21.2Pitt-Hopkins syndrome610954
    TCIRG111q13.2Osteopetrosis, autosomal recessive 1259700
    TGM114q12Ichthyosis, congenital, autosomal recessive 1242300
    TH11p15.5Segawa syndrome, recessive605407
    TIMM8AXq22.1Deafness, X-linked 1, progressive300066
    Jensen syndrome311150
    Mohr-Tranebjaerg syndrome304700
    TK216q21Mitochondrial DNA depletion syndrome 2 (myopathic type)609560
    TLR34q35.1Herpes simplex encephalitis, susceptibility to, 2613002
    HIV1 infection, resistance to609423
    TMEM678q22.1COACH syndrome216360
    Joubert syndrome 6610688
    Meckel syndrome 3607361
    Nephronophthisis 11613550
    Bardet-Biedl syndrome 14, modifier of209900
    TNFRSF11B8q24.12Paget disease of bone 5, juvenile-onset239000
    TPP111p15.4Ceroid lipofuscinosis, neuronal, 2204500
    Spinocerebellar ataxia, autosomal recessive 7609270
    TRAPPC98q24.3Mental retardation, autosomal recessive 13613192
    TREX13p21.31Aicardi-Goutieres syndrome 1, dominant and recessive225750
    Chilblain lupus610448
    Vasculopathy, retinal, with cerebral leukodystrophy192315
    Systemic lupus erythematosus, susceptibility to152700
    TRIM3717q22Mulibrey nanism253250
    TSEN5417q25.1Pontocerebellar hypoplasia type 5610204
    Pontocerebellar hypoplasia type 2A277470
    Pontocerebellar hypoplasia type 4225753
    TSFM12q14.1Combined oxidative phosphorylation deficiency 3610505
    TSHB1p13.2Hypothryoidism, congenital, nongoitrous 4275100
    TSPYL16q22.1Sudden infant death with dysgenesis of the testes syndrome608800
    TTPA8q12.3Ataxia with isolated vitamin E deficiency277460
    TUBA1A12q13.12Lissencephaly 3611603
    TUFM16p11.2Combined oxidative phosphorylation deficiency 4610678
    TUSC38p22Mental retardation, autosomal recessive 7611093
    TYK219p13.2Immunodeficiency 35611521
    TYMP22q13.33Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041
    UBA1Xp11.23Spinal muscular atrophy, X-linked 2, infantile301830
    UBE2AXq24Mental retardation, X-linked syndromic, Nascimento-type300860
    UBE3A15q11.2Angelman syndrome105830
    UBR115q15.2Johanson-Blizzard syndrome243800
    UNC13D17q25.1Hemophagocytic lymphohistiocytosis, familial, 3608898
    UNC93B111q13.2Herpes simplex encephalitis, susceptibility to, 1610551
    UPF3BXq24Mental retardation, X-linked, syndromic 14300676
    UQCRB8q22.1Mitochondrial complex III deficiency, nuclear type 3615158
    UQCRQ5q31.1Mitochondrial complex III deficiency, nuclear type 4615159
    UROS10q26.1-q26.2Porphyria, congenital erythropoietic263700
    USH1C11p15.1Deafness, autosomal recessive 18A602092
    Usher syndrome, type 1C276904
    USH1G17q25.1Usher syndrome, type 1G606943
    USH2A1q41Retinitis pigmentosa 39613809
    Usher syndrome, type 2A276901
    VDR12q13.11Osteoporosis, involutional166710
    Rickets, vitamin D-resistant, type IIA277440
    VIPAR14q24.3Arthrogryposis, renal dysfunction, and cholestasis 2613404
    VLDLR9p24.2

    Cerebellar hypoplasia and mental retardation with or without quadrupedal

     

    locomotion 1

    224050
    VPS13B8q22.2Cohen syndrome216550
    VPS33B15q26.1Arthrogryposis, renal dysfunction, and cholestasis 1208085
    WASXp11.23Neutropenia, severe congenital, X-linked300299
    Thrombocytopenia, X-linked313900
    Thrombocytopenia, X-linked, intermittent313900
    Wiskott-Aldrich syndrome301000
    WNT10A2q35Odontoonychodermal dysplasia257980
    Schopf-Schulz-Passarge syndrome224750
    Tooth agenesis, selective, 4150400
    WNT317q21.31Tetra-amelia syndrome273395
    WNT7A3p25.1Fuhrmann syndrome228930
    Ulna and fibula, absence of, with severe limb deficiency276820
    XIAPXq25Lymphoproliferative syndrome, X-linked, 2300635
    XPA9q22.33Xeroderma pigmentosum, group A278700
    XPC3p25.1Xeroderma pigmentosum, group C278720
    ZDHHC9Xq26.1Mental retardation, X-linked syndromic, Raymond type300799
    ZEB22q22.3Mowat-Wilson syndrome235730
    ZIC3Xq26.3Congenital heart defects, nonsyndromic, 1, X-linked306955
    Heterotaxy, visceral, 1, X-linked306955
    VACTERL association, X-linked314390
    ZMPSTE241p34.2Mandibuloacral dysplasia with type B lipodystrophy608612
    Restrictive dermopathy, lethal275210
    ZNF41Xp11.23Zinc Finger Protein 41314995
    ZNF46916q24.2Brittle cornea syndrome 1229200
    ZNF674Xp11.3-p11.2Zinc Finger Protein 674300573
    ZNF711Xq21.1Mental retardation, X-linked 97300803
    COL1A117q21.33Caffey disease114000
    Ehlers-Danlos syndrome, classic130000
    Ehlers-Danlos syndrome, type VIIA130060
    Osteogenesis imperfecta, type I166200
    Osteogenesis imperfecta, type II166210
    Osteogenesis imperfecta, type III259420
    Osteogenesis imperfecta, type IV166220
    Bone mineral density variation QTL, osteoporosis166710
    COL1A27q21.3Ehlers-Danlos syndrome, cardiac valvular form225320
    Ehlers-Danlos syndrome, type VIIB130060
    Osteogenesis imperfecta, type II166210
    Osteogenesis imperfecta, type III259420
    Osteogenesis imperfecta, type IV166220
    Osteoporosis, postmenopausal166710
    COL6A121q22.3Bethlem myopathy158810
    Ullrich congenital muscular dystrophy254090
    COL6A221q22.3Myosclerosis, congenital255600
    Bethlem myopathy158810
    Ullrich congenital muscular dystrophy254090
    COL6A32q37.3Bethlem myopathy158810
    Dystonia 27616411
    Ullrich congenital muscular dystrophy254090
    DOK74p16.3Fetal akinesia deformation sequence208150
    Myasthenic syndrome, congenital, 10254300
    G6PC17q21.31Glycogen storage disease Ia232200
    HIBCH2q32.23-hydroxyisobutryl-CoA hydrolase deficiency250620
    LMNA1q22Cardiomyopathy, dilated, 1A115200
    Charcot-Marie-Tooth disease, type 2B1605588
    Emery-Dreifuss muscular dystrophy 2, AD181350
    Emery-Dreifuss muscular dystrophy 3, AR181350
    Heart-hand syndrome, Slovenian type610140
    Hutchinson-Gilford progeria176670
    Lipodystrophy, familial partial, 2151660
    Malouf syndrome212112
    Mandibuloacral dysplasia248370
    Muscular dystrophy, congenital613205
    Muscular dystrophy, limb-girdle, type 1B159001
    Restrictive dermopathy, lethal275210
    OXCT15p13.1Succinyl CoA:3-oxoacid CoA transferase deficiency245050
    UBE3A15q11.2Angelman syndrome105830

     

     

    ¿El TCG también se utiliza para detectar enfermedades dominantes?

     

    No. La función de este test es detectar mutaciones que pasan desapercibidas y que causan enfermedades recesivas. Normalmente, las enfermedades dominantes se manifiestan, por lo que no es necesario hacer este cribado.

     

    Si con el TCG se detecta que un donante es portador de una enfermedad genética, ¿se descarta?

     

    No. La mayoría de nosotros somos portadores de alguna enfermedad genética. Si se descartara a todos los portadores, sería muy difícil encontrar donantes. La ventaja de realizar el TCG tanto a los donantes como a los pacientes es encontrar compatibilidades entre los dos. Es decir, que no coincidan en los genes mutados para evitar que los hijos estén afectados por alguna enfermedad recesiva.

    Puedes acceder a cualquiera de las otras técnicas genéticas para saber detalles de cada una.

    Pruebas Genéticas

    DGP

    El DGP es útil en parejas con elevado riesgo genético y para mejorar la eficiencia de un proceso de Fecundación in Vitro.

    Permite estudiar las características genéticas de los embriones antes de su transferencia al útero materno para evitar que tu futuro hijo nazca con enfermedades que se transmiten genéticamente.

    PGS/PGT-A

    Pruebas genéticas previas a la implantación para la aneuploidía (PGT-A) también conocido como PGS. Todos los cromosomas se pueden evaluar y solo los embriones identificados con bajo riesgo de anomalías cromosómicas se seleccionan para la transferencia de embriones.

    Eeva

    Test de evaluación precoz de viabilidad embrionaria.

    El sistema EEVA detecta automáticamente las divisiones embrionarias sin necesidad de sacar los embriones del incubador, manteniendo por tanto las condiciones óptimas de culti

    PGT-M

    Una prueba genética diseñada para reducir el riesgo de tener un hijo con una afección hereditaria.

    Detección de Enfermedades en Donantes

    La prueba prácticamente elimina el riesgo del bebé de heredar enfermedades genéticas graves de la donante y del padre.

     

    TCG 549

    La prueba TCG 549 permite identificar la presencia de genes causantes de enfermedades transmisibles a la descendencia.

     

    ¿Tienes otra pregunta?

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