fbpx

INSEMINACION ARTIFICIAL

Desde 800 Euros

               FIV

20% DESCUENTO

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

    GENE LOCUS DISEASE OMIM
    AAAS 12q13.13 Achalasia-addisonianism-alacrimia syndrome 231550
    ABCA12 2q35 Ichthyosis, autosomal recessive 4B (harlequin) 242500
    ABCA3 16p13.3 Surfactant metabolism dysfunction, pulmonary, 3 610921
    ABCB11 2q31.1 Cholestasis, benign recurrent intrahepatic, 2 605479
    Cholestasis, progressive familial intrahepatic 2 601847
    ABCB4 7q21.12 Cholestasis, intrahepatic, of pregnancy, 3 614972
    Cholestasis, progressive familial intrahepatic 3 602347
    Gallbladder disease 1 600803
    ABCC8 11p15.1 Diabetes mellitus, noninsulin-dependent 125853
    Diabetes mellitus, permanent neonatal 606176
    Diabetes mellitus, transient neonatal 2 610374
    Hyperinsulinemic hypoglycemia, familial, 1 256450
    Hypoglycemia of infancy, leucine-sensitive 240800
    ABCD1 Xq28 Adrenoleukodystrophy 300100
    Adrenomyeloneuropathy, adult 300100
    ACAD9 3q21.3 Mitochondrial complex I deficiency due to ACAD9 deficiency 611126
    ACADL 17p13.1 VLCAD deficiency 201475
    ACADM 1p31.1 Acyl-CoA dehydrogenase, medium chain, deficiency of 201450
    ACADVL 17p13.1 VLCAD deficiency 201475
    ACAT1 11q22.3 Alpha-methylacetoacetic aciduria 203750
    ACOX1 17q25.1 Peroxisomal acyl-CoA oxidase deficiency 264470
    ACSL4 Xq23 Mental retardation, X-linked 63 300387
    ADA 20q13.12 Severe combined immunodeficiency due to ADA deficiency 102700
    Adenosine deaminase deficiency, partial 102700
    ADAMTS13 9q34.2 Thrombotic thrombocytopenic purpura, familial 274150
    ADAMTSL2 9q34.2 Geleophysic dysplasia 1 231050
    ADCK3 1q42.13 Coenzyme Q10 deficiency, primary, 4 612016
    AFF2 (FMR2) Xq28 Mental retardation, X-linked, FRAXE type 309548
    AGL 1p21.2 Glycogen storage disease IIIa 232400
    Glycogen storage disease IIIb 232400
    AGPS 2q31.2 Rhizomelic chondrodysplasia punctata, type 3 600121
    AGTR2 Xq24 Mental retardation, X-linked 88 300852
    AHI1 6q23.3 Joubert syndrome-3 608629
    AIRE 21q22.3

    Autoimmune polyendocrinopathy syndrome , type I, with or without

     

    reversible metaphyseal dysplasia

    240300
    ALDH3A2 17p11.2 Sjogren-Larsson syndrome 270200
    ALDH5A1 6p22.3 Succinic semialdehyde dehydrogenase deficiency 271980
    ALDH7A1 5q23.2 Epilepsy, pyridoxine-dependent 266100
    ALDOB 9q31.1 Fructose intolerance 229600
    ALG1 16p13.3 Congenital disorder of glycosylation, type Ik
    ALG12 22q13.33 Congenital disorder of glycosylation, type Ig 607143
    ALG2 9q22.33 Congenital disorder of glycosylation, type Ii 607906
    Myasthenic syndrome, congenital, 14, with tubular aggregates 616228
    ALG3 3q27.1 Congenital disorder of glycosylation, type Id 601110
    ALG6 1p31.3 Congenital disorder of glycosylation, type Ic 603147
    ALG8 11q14.1 Congenital disorder of glycosylation, type Ih 608104
    ALG9 11q23.1 Congenital disorder of glycosylation, type Il 608776
    ALMS1 2p13.1 Alstrom syndrome 203800
    ALPL 1p36.12 Hypophosphatasia, adult 146300
    Hypophosphatasia, childhood 241510
    Hypophosphatasia, infantile 241500
    Odontohypophosphatasia 146300
    ALS2 2q33.1 Amyotrophic lateral sclerosis 2, juvenile 205100
    Primary lateral sclerosis, juvenile 606353
    Spastic paralysis, infantile onset ascending 607225
    AMACR 5p13.2 Alpha-methylacyl-CoA racemase deficiency 614307
    Bile acid synthesis defect, congenital, 4 214950
    AMT 3p21.31 Glycine encephalopathy 605899
    ANTXR2 4q21.21 Hyaline fibromatosis syndrome 228600
    AP1S2 Xp22.2 Mental retardation, X-linked syndromic 5 304340
    AP3B1 5q14.1 Hermansky-Pudlak syndrome 2 608233
    APTX 9p21.1 Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 208920
    AR Xq12 Androgen insensitivity 300068
    Androgen insensitivity, partial, with or without breast cancer 312300
    Hypospadias 1, X-linked 300633
    Spinal and bulbar muscular atrophy of Kennedy 313200
    ARHGEF6 Xq26.3 Mental retardation, X-linked 46 300436
    ARHGEF9 Xq11.1-q11.2 Epileptic encephalopathy, early infantile, 8 300607
    ARSA 22q13.33 Metachromatic leukodystrophy 250100
    ARSB 5q14.1 Mucopolysaccharidosis type VI (Maroteaux-Lamy) 253200
    ARSE Xp22.33 Chondrodysplasia punctata, X-linked recessive 302950
    ARX Xp21.3 Epileptic encephalopathy, early infantile, 1 308350
    Hydranencephaly with abnormal genitalia 300215
    Lissencephaly, X-linked 2 300215
    Mental retardation, X-linked 29 and others 300419
    Partington syndrome 309510
    Proud syndrome 300004
    ASL 7q11.21 Argininosuccinic aciduria 207900
    ASPA 17p13.2 Canavan disease 271900
    ASS1 9q34.11 Citrullinemia 215700
    ATM 11q22.3 Ataxia-telangiectasia 208900
    ATP6V0A2 12q24.31 Cutis laxa, autosomal recessive, type IIA 219200
    Wrinkly skin syndrome 278250
    ATP7A Xq21.1 Menkes disease 309400
    Occipital horn syndrome 304150
    Spinal muscular atrophy, distal, X-linked 3 300489
    ATP7B 13q14.3 Wilson disease 277900
    ATP8B1 18q21.31 Cholestasis, benign recurrent intrahepatic 243300
    Cholestasis, intrahepatic, of pregnancy, 1 147480
    Cholestasis, progressive familial intrahepatic 1 211600
    ATR 3q23 Cutaneous telangiectasia and cancer syndrome, familial 614564
    Seckel syndrome 1 210600
    ATRX Xq21.1 Alpha-thalassemia myelodysplasia syndrome, somatic 300448
    Alpha-thalassemia/mental retardation syndrome 301040
    Mental retardation-hypotonic facies syndrome, X-linked 309580
    AUH 9q22.31 3-methylglutaconic aciduria, type I 250950
    B4GALT1 9p21.1 Congenital disorder of glycosylation, type IId 607091
    BCKDHA 19q13.2 Maple syrup urine disease, type Ia 248600
    BCKDHB 6q14.1 Maple syrup urine disease, type Ib 248600
    BCOR Xp11.4 Microphthalmia, syndromic 2 300166
    BCS1L 2q35 Bjornstad syndrome 262000
    GRACILE syndrome 603358
    Leigh syndrome 256000
    Mitochondrial complex III deficiency, nuclear type 1 124000
    BLM 15q26.1 Bloom syndrome 210900
    BRWD3 Xq21.1 Mental retardation, X-linked 93 300659
    BTD 3p25.1 Biotinidase deficiency 253260
    BTK Xq22.1 Agammaglobulinemia and isolated hormone deficiency 307200
    Agammaglobulinemia, X-linked 1 300755
    C10orf2 10q24.31 Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) 271245
    Perrault syndrome 5
    CA2 8q21.2 Osteopetrosis, autosomal recessive 3, with renal tubular acidosis 259730
    CASK Xp11.4 FG syndrome 4 300422
    Mental retardation and microcephaly with pontine and cerebellar hypoplasia 300749
    Mental retardation, with or without nystagmus 300422
    Non-Hodgkin lymphoma, somatic 605027
    CBS 21q22.3 Homocystinuria, B6-responsive and nonresponsive types 236200
    Thrombosis, hyperhomocysteinemic 236200
    CD19 16p11.2 Immunodeficiency, common variable, 3 613493
    CD247 1q24.2 Immunodeficiency 25 610163
    CD3D 11q23.3 Immunodeficiency 19 615617
    CD3E 11q23.3 Immunodeficiency 18 615615
    Immunodeficiency 18, SCID variant 615615
    CD3G 11q23.3 Immunodeficiency 17, CD3 gamma deficient 615607
    CD40LG Xq26.3 Immunodeficiency, X-linked, with hyper-IgM 308230
    CDH23 10q22.1 Deafness, autosomal recessive 12 601386
    Usher syndrome, type 1D 601067
    Usher syndrome, type 1D/F digenic 601067
    CDKL5 Xp22.13 Angelman syndrome-like 105830
    Epileptic encephalopathy, early infantile, 2 300672
    CEP290 12q21.32 Bardet-Biedl syndrome 14 615991
    Joubert syndrome 5 610188
    Leber congenital amaurosis 10 611755
    Meckel syndrome 4 611134
    Senior-Loken syndrome 6 610189
    CFP Xp11.23 Properdin deficiency, X-linked 312060
    CFTR 7q31.2 Cystic fibrosis 219700
    CHRNA1 2q31.1 Multiple pterygium syndrome, lethal type 253290
    Myasthenic syndrome, congenital, 1A, slow-channel 601462
    Myasthenic syndrome, congenital, 1B, fast-channel 608930
    CHRND 2q37.1 Myasthenic syndrome, congenital, 3A, slow-channel 616321

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

     

    deficiency

    616323
    Multiple pterygium syndrome, lethal type 253290
    Myasthenic syndrome, congenital, 3B, fast-channel
    CHRNG 2q37.1 Escobar syndrome 265000
    Multiple pterygium syndrome, lethal type 253290
    CLCN5 Xp11.23-p11.22 Dent disease 300009
    Hypophosphatemic rickets 300554
    Nephrolithiasis, type I 310468
    Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis 308990
    CLCN7 16p13.3 Osteopetrosis, autosomal dominant 2 166600
    Osteopetrosis, autosomal recessive 4 611490
    CLDN1 3q28 Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis 607626
    CLDN19 1p34.2 Hypomagnesemia 5, renal, with ocular involvement 248190
    CLN3 16p11.2 Ceroid lipofuscinosis, neuronal, 3 204200
    CLN5 13q22.3 Ceroid lipofuscinosis, neuronal, 5 256731
    CLN6 15q23 Ceroid lipofuscinosis, neuronal, 6 601780
    Ceroid lipofuscinosis, neuronal, Kufs type, adult onset 204300
    CLN8 8p23.3 Ceroid lipofuscinosis, neuronal, 8 600143
    Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant 610003
    CLRN1 3q25.1 Retinitis pigmentosa 61 614180
    Usher syndrome, type 3A 276902
    COG1 17q25.1 Congenital disorder of glycosylation, type IIg 611209
    COG7 16p12.2 Congenital disorder of glycosylation, type IIe 608779
    COG8 16q22.1 Congenital disorder of glycosylation, type IIh 611182
    COL17A1 10q24.3-q25.1 Epidermolysis bullosa, junctional, non-Herlitz type 226650
    COL4A3 2q36.3 Alport syndrome, autosomal dominant 104200
    Alport syndrome, autosomal recessive 203780
    Hematuria, benign familial 141200
    COL4A 2q36.3 Alport syndrome, autosomal recessive 203780
    Hematuria, familial benign
    COL4A5 Xq22.3 Alport syndrome 301050
    COL7A1 3p21.31 EBD inversa 226600
    EBD, Bart type 132000
    EBD, localisata variant
    Epidermolysis bullosa dystrophica, AD 131750
    Epidermolysis bullosa dystrophica, AR 226600
    Epidermolysis bullosa pruriginosa 604129
    Epidermolysis bullosa, pretibial 131850
    Toenail dystrophy, isolated 607523
    Transient bullous of the newborn 131705
    COQ2 4q21.23 Coenzyme Q10 deficiency, primary, 1 607426
    COQ9 16q21 Coenzyme Q10 deficiency, primary, 5 614654
    COX10 17p12 Leigh syndrome due to mitochondrial COX4 deficiency 256000
    Mitochondrial complex IV deficiency 220110
    COX15 10q24.2

    Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase

     

    deficiency 2

    615119
    Leigh syndrome due to cytochrome c oxidase deficiency 256000
    COX6B1 19q13.12 Mitochondrial complex IV deficiency 220110
    CPS1 2q34 Carbamoylphosphate synthetase I deficiency 237300
    CPT1A 11q13.3 CPT deficiency, hepatic, type IA 255120
    CPT2 1p32.3 CPT deficiency, hepatic, type II 600649
    CPT II deficiency, lethal neonatal 608836
    Myopathy due to CPT II deficiency 255110
    CRLF1 19p13.11 Cold-induced sweating syndrome 1 272430
    CRTAP 3p22.3 Osteogenesis imperfecta, type VII 610682
    CSTB 21q22.3 Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) 254800
    CTNS 17p13.2 Cystinosis, atypical nephropathic 219800
    Cystinosis, late-onset juvenile or adolescent nephropathic 219900
    Cystinosis, nephropathic 219800
    Cystinosis, ocular nonnephropathic 219750
    CTSD 11p15.5 Ceroid lipofuscinosis, neuronal, 10 610127
    CTSK 1q21.3 Pycnodysostosis 265800
    CUL4B Xq24 Mental retardation, X-linked, syndromic 15 (Cabezas type) 300354
    CYP11A1 15q24.1 Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete 613743
    CYP11B1 8q24.3 Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency 202010
    Aldosteronism, glucocorticoid-remediable 103900
    CYP17A1 10q24.32 17,20-lyase deficiency, isolated 202110
    17-alpha-hydroxylase/17,20-lyase deficiency 202110
    CYP21A2 6p21.33 Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency 201910
    Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency 201910
    CYP27A1 2q35 Cerebrotendinous xanthomatosis 213700
    CYP27B1 12q14.1 Vitamin D-dependent rickets, type I 264700
    DBT 1p21.2 Maple syrup urine disease, type II 248600
    DCLRE1C 10p13 Omenn syndrome 603554
    Severe combined immunodeficiency, Athabascan type 602450
    DCX Xq23 Lissencephaly, X-linked 300067
    Subcortical laminal heteropia, X-linked 300067
    DDB2 11p11.2 Xeroderma pigmentosum, group E, DDB-negative subtype 278740
    DDC 7p12.1 Aromatic L-amino acid decarboxylase deficiency 608643
    DGUOK 2p13.1 Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) 251880
    DHCR24 1p32.3 Desmosterolosis 602398
    DHCR7 11q13.4 Smith-Lemli-Opitz syndrome 270400
    DKC1 Xq28 Dyskeratosis congenita, X-linked 305000
    DLD 31.1 Dihydrolipoamide dehydrogenase deficiency 246900
    DLG3 Xq13.1 Mental retardation, X-linked 90 300850
    DLL3 19q13.2 Spondylocostal dysostosis 1, autosomal recessive 277300
    DMD Xp21.2-p21.1 Becker muscular dystrophy 300376
    Cardiomyopathy, dilated, 3B 302045
    Duchenne muscular dystrophy 310200
    DMP1 4q22.1 Hypophosphatemic rickets, AR 241520
    DNAJC19 3q26.33 3-methylglutaconic aciduria, type V 610198
    DNMT3B 20q11.21 Immunodeficiency-centromeric instability-facial anomalies syndrome 1 242860
    DOCK8 9p24.3 Hyper-IgE recurrent infection syndrome, autosomal recessive 243700
    Mental retardation, autosomal dominant 2 614113
    DOLK 9q34.11 Congenital disorder of glycosylation, type Im 610768
    DPAGT1 11q23.3 Congenital disorder of glycosylation, type Ij 608093
    Myasthenic syndrome, congenital, 13, with tubular aggregates 614750
    DPM1 20q13.13 Congenital disorder of glycosylation, type Ie 608799
    DPYD 1p21.3 Dihydropyrimidine dehydrogenase deficiency 274270
    DSP 6p24.3 Arrhythmogenic right ventricular dysplasia 8 607450
    Cardiomyopathy, dilated, with woolly hair and keratoderma 605676
    Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis 615821
    Epidermolysis bullosa, lethal acantholytic 609638
    Keratosis palmoplantaris striata II 612908
    Skin fragility-woolly hair syndrome 607655
    DYNC2H1 11q22.3 Short-rib thoracic dysplasia 3 with or without polydactyly 613091
    EDA Xq13.1 Ectodermal dysplasia 1, hypohidrotic, X-linked 305100
    Tooth agenesis, selective, X-linked 1 313500
    EDN3 20q13.32 Central hypoventilation syndrome, congenital 209880
    Waardenburg syndrome, type 4B 613265
    EDNRB 13q22.3 ABCD syndrome 600501
    Waardenburg syndrome, type 4A 277580
    EFEMP2 11q13.1 Cutis laxa, autosomal recessive, type IB 614437
    EFNB1 Xq13.1 Craniofrontonasal dysplasia 304110
    EGR2 10q21.3 Charcot-Marie-Tooth disease, type 1D 607678
    Dejerine-Sottas disease 145900
    Neuropathy, congenital hypomyelinating, 1 605253
    EIF2AK3 2p11.2 Wolcott-Rallison syndrome 226980
    ENPP1 6q23.2 Arterial calcification, generalized, of infancy, 1 208000
    Cole disease 615522
    Hypophosphatemic rickets, autosomal recessive, 2 613312
    Diabetes mellitus, non-insulin-dependent, susceptibility to 125853
    Obesity, susceptibility to 601665
    EPM2A 6q24.3 Epilepsy, progressive myoclonic 2A (Lafora) 254780
    ERBB3 12q13.2 Lethal congenital contractural syndrome 2 607598
    ERCC2 19q13.32 Cerebrooculofacioskeletal syndrome 2 610756
    Trichothiodystrophy 1, photosensitive 601675
    Xeroderma pigmentosum, group D 278730
    ERCC3 2q14.3 Trichothiodystrophy 2, photosensitive 616390
    Xeroderma pigmentosum, group B 610651
    ERCC4 16p13.12 Fanconi anemia, complementation group Q 610965
    Xeroderma pigmentosum, group F 278760
    Xeroderma pigmentosum, type F/Cockayne syndrome 278760
    XFE progeroid syndrome 610965
    ERCC5 3q33.1 Xeroderma pigmentosum, group G 278780
    Xeroderma pigmentosum, group G/Cockayne syndrome 278780
    ERCC6 10q11.23 Cerebrooculofacioskeletal syndrome 1 214150
    Cockayne syndrome, type B 133540
    De Sanctis-Cacchione syndrome 278800
    UV-sensitive syndrome 1 600630
    Macular degeneration, age-related, susceptibility to 5 613761
    ERCC8 5q12.1 Cockayne syndrome, type A 216400
    UV-sensitive syndrome 2 614621
    ESCO2 8p21.1 Roberts syndrome 268300
    SC phocomelia syndrome 269000
    ETFA 15q24.2-q24.3 Glutaric acidemia IIA 231680
    ETFB 19q13.41 Glutaric acidemia IIB 231680
    ETFDH 4q32.1 Glutaric acidemia IIC 231680
    ETHE1 19q13.31 Ethylmalonic encephalopathy 602473
    EVC 4p16.2 Ellis-van Creveld syndrome 225500
    Weyers acrodental dysostosis 193530
    EVC2 4p16.2 Ellis-van Creveld syndrome 225500
    Weyers acrofacial dysostosis 193530
    F8 Xq28 Hemophilia A 306700
    F9 Xq27.1 Hemophilia B 306900
    Thrombophilia, X-linked, due to factor IX defect 300807
    Deep venous thrombosis, protection against 300807
    Warfarin sensitivity 122700
    FAH 15q25.1 Tyrosinemia, type I 276700
    FAM126A 7p15.3 Leukodystrophy, hypomyelinating, 5 610532
    FAM20C 7p22.3 Raine syndrome 259775
    FANCC 9q22.32 Fanconi anemia, complementation group C 227645
    FAS 10q23.31 Autoimmune lymphoproliferative syndrome, type IA 601859
    Squamous cell carcinoma, burn scar-related, somatic
    Autoimmune lymphoproliferative syndrome 601859
    FASLG 1q24.3 Autoimmune lymphoproliferative syndrome, type IB 601859
    FASTKD2 2q33.3 Mitochondrial complex IV deficiency 220110
    FBLN5 14q32.12 Cutis laxa, autosomal recessive, type IA 219100
    FERMT3 11q13.1 Leukocyte adhesion deficiency, type III 612840
    FGA 4q31.3 Afibrinogenemia, congenital 202400
    Amyloidosis, familial visceral 105200
    Dysfibrinogenemia, congenital 616004
    Hypodysfibrinogenemia, congenital 616004
    FGD1 Xp11.22 Aarskog-Scott syndrome 305400
    Mental retardation, X-linked syndromic 16 305400
    FGD4 12p11.21 Charcot-Marie-Tooth disease, type 4H 609311
    FH 19p13.2 Hypercholesterolemia, familial 143890
    LDL cholesterol level QTL2 143890
    FKRP 19q13.32

    Muscular dystrophy-dystroglycanopathy (congenital with brain and eye

     

    anomalies), type A, 5

    613153
    Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5 606612
    Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 607155
    FKTN 9q31.2 Cardiomyopathy, dilated, 1X 611615

    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, 4 611588
    FOLR1 11q13.4 Neurodegeneration due to cerebral folate transport deficiency 613068
    FOXG1 14q12 Rett syndrome, congenital variant 613454
    FOXN1 17q11.2 T-cell immunodeficiency, congenital alopecia, and nail dystrophy 601705
    FOXP3 Xp11.23 Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked 304790
    Diabetes mellitus, type I, susceptibility to 222100
    FRAS1 4q21.21 Fraser syndrome 219000
    FREM2 13q13.3 Fraser syndrome 219000
    FTSJ1 Xp11.23 Mental retardation, X-linked 9 309549
    FUCA1 1p36.11 Fucosidosis 230000
    G6PC3 17q21.31 Dursun syndrome 612541
    Neutropenia, severe congenital 4, autosomal recessive 612541
    G6PD Xq28 Favism 134700
    Hemolytic anemia due to G6PD deficiency 300908
    Resistance to malaria due to G6PD deficiency 611162
    GAA 17q25.3 Glycogen storage disease II 232300
    GALC 14q31.3 Krabbe disease 245200
    GALK1 17q25.1 Galactokinase deficiency with cataracts 230200
    GALT 9p13.3 Galactosemia 230400
    GAMT 19p13.3 Cerebral creatine deficiency syndrome 2 612736
    GBA 1q22 Gaucher disease, perinatal lethal 608013
    Gaucher disease, type I 230800
    Gaucher disease, type II 230900
    Gaucher disease, type III 231000
    Gaucher disease, type IIIC 231005
    Lewy body dementia, susceptibility to 127750
    Parkinson disease, late-onset, susceptibility to 168600
    GBE1 3p12.2 Glycogen storage disease IV 232500
    Polyglucosan body disease, adult form 263570
    GCDH 19p13.2 Glutaricaciduria, type I 231670
    GCSH 16q23.2 Glycine encephalopathy 605899
    GDAP1 8q21.11 Charcot-Marie-Tooth disease, axonal, type 2K 607831
    Charcot-Marie-Tooth disease, axonal, with vocal cord paresis 607706
    Charcot-Marie-Tooth disease, recessive intermediate, A 608340
    Charcot-Marie-Tooth disease, type 4A 214400
    GDI1 Xq28 Mental retardation, X-linked 41 300849
    GFM1 3q25.32 Combined oxidative phosphorylation deficiency 1 609060
    GJB2 13q12.11 Bart-Pumphrey syndrome 149200
    Deafness, autosomal dominant 3A 601544
    Deafness, autosomal recessive 1A 220290
    Hystrix-like ichthyosis with deafness 602540
    Keratitis-ichthyosis-deafness syndrome 148210
    Keratoderma, palmoplantar, with deafness 148350
    Vohwinkel syndrome 124500
    GJC2 1q42.13 Leukodystrophy, hypomyelinating, 2 608804
    Lymphedema, hereditary, IC 613480
    Spastic paraplegia 44, autosomal recessive 613206
    GLA Xq22.1 Fabry disease 301500
    Fabry disease, cardiac variant 301500
    GLB1 3p22.3 GM1-gangliosidosis, type I 230500
    GM1-gangliosidosis, type II 230600
    GM1-gangliosidosis, type III 230650
    Mucopolysaccharidosis type IVB (Morquio) 253010
    GLDC 9p24.1 Glycine encephalopathy 605899
    GLE1 9q34.11 Arthrogryposis, lethal, with anterior horn cell disease 611890
    Lethal congenital contracture syndrome 1 253310
    GNPTAB 12q23.2 Mucolipidosis II alpha/beta 252500
    Mucolipidosis III alpha/beta 252600
    GNRHR 4q13.2 Hypogonadotropic hypogonadism 7 without anosmia 146110
    GPC3 Xq26.2 Simpson-Golabi-Behmel syndrome, type 1 312870
    Wilms tumor, somatic 194070
    GPR98 5q14.3 Febrile seizures, familial, 4 604352
    Usher syndrome, type 2C 605472
    Usher syndrome, type 2C, GPR98/PDZD7 digenic 605472
    GRIK2 6q16.3 Mental retardation, autosomal recessive, 6 611092
    GSS 20q11.22 Glutathione synthetase deficiency 266130
    Hemolytic anemia due to glutathione synthetase deficiency 231900
    GTF2H5 6q25.3 Trichothiodystrophy 3, photosensitive 616395
    GUSB 7q11.21 Mucopolysaccharidosis VII 253220
    HADH 4q25 3-hydroxyacyl-CoA dehydrogenase deficiency 231530
    Hyperinsulinemic hypoglycemia, familial, 4 609975
    HADHA 2p23.3 Fatty liver, acute, of pregnancy 609016
    HELLP syndrome, maternal, of pregnancy 609016
    LCHAD deficiency 609016
    Trifunctional protein deficiency 609015
    HADHB 2p23.3 Trifunctional protein deficiency 609015
    HAMP 19q13.12 Hemochromatosis, type 2B 613313
    HAX1 1q21.3 Neutropenia, severe congenital 3, autosomal recessive 610738
    HBA1 16p13.3 Erythremias, alpha- 141800
    Heinz body anemias, alpha- 140700
    Hemoglobin H disease, nondeletional 613978
    Methemoglobinemias, alpha- 141800
    Thalassemias, alpha- 604131
    HBB 11p15.4 Delta-beta thalassemia 141749
    Erythremias, beta- 141800
    Heinz body anemias, beta- 140700
    Hereditary persistence of fetal hemoglobin 141749
    Methemoglobinemias, beta- 141900
    Sickle cell anemia 603903
    Thalassemias, beta- 613985
    HESX1 3p14.3 Growth hormone deficiency with pituitary anomalies 182230
    Pituitary hormone deficiency, combined, 5 182230
    Septooptic dysplasia 182230
    HEXA 15q23 GM2-gangliosidosis, several forms 272800
    Tay-Sachs disease 272800
    Hex A pseudodeficiency 272800
    HEXB 5q13.3 Sandhoff disease, infantile, juvenile, and adult forms 268800
    HFE2 1q21.1 Hemochromatosis, type 2A 602390
    HGSNAT 8p11.21 Mucopolysaccharidosis type IIIC (Sanfilippo C) 252930
    HIBCH 2q32.2 3-hydroxyisobutryl-CoA hydrolase deficiency 250620
    HLCS 21q22.13 Holocarboxylase synthetase deficiency 253270
    HMGCL 1p36.11 HMG-CoA lyase deficiency 246450
    HP 12q24.31 Hawkinsinuria 140350
    Tyrosinemia, type III 276710
    HPRT Xq26.2-q26.3 KELLEY-SEEGMILLER SYNDROME 300323
    Lesch-Nyhan syndrome 300322
    HSD11B2 16q22.1 Apparent mineralocorticoid excess 218030
    HSD17B10 Xp11.22 17-beta-hydroxysteroid dehydrogenase X deficiency 300438
    Mental retardation, X-linked syndromic 10 300220
    HSD17B3 9q22.32 Pseudohermaphroditism, male, with gynecomastia 264300
    HSD17B4 5q23.1 D-bifunctional protein deficiency 261515
    Perrault syndrome 1 233400
    HSD3B2 1p12 3-beta-hydroxysteroid dehydrogenase, type II, deficiency 201810
    HSPG2 1p36.12 Dyssegmental dysplasia, Silverman-Handmaker type 224410
    Schwartz-Jampel syndrome, type 1 255800
    HUWE1 Xp11.22 Mental retardation, X-linked syndromic, Turner type 300706
    ICOS 2q33.2 Immunodeficiency, common variable, 1 607594
    IDS Xq28 Mucopolysaccharidosis II 309900
    IDUA 4p16.3 Mucopolysaccharidosis Ih ( Hurler Syndrome) 607014
    Mucopolysaccharidosis Ih/s ( HURLER-SCHEIE SYNDROME) 607015
    Mucopolysaccharidosis Is (SCHEIE SYNDROME) 607016
    IFNGR1 6q23.3 Immunodeficiency 27A, mycobacteriosis, AR 209950
    Immunodeficiency 27B, mycobacteriosis, AD 615978
    IFNGR2 21q22.11 Immunodeficiency 28, mycobacteriosis 614889
    IFT80 3q25.33 Short-rib thoracic dysplasia 2 with or without polydactyly 611263
    IGHMBP2 11q13.3 Charcot-Marie-Tooth disease, axonal, type 2S 616155
    Neuronopathy, distal hereditary motor, type VI 604320
    IKBKAP 9q31.3 Dysautonomia, familial 223900
    IKBKG Xq28 Ectodermal dysplasia, hypohidrotic, with immune deficiency 300291
    Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency 300301
    Immunodeficiency 33 300636
    Immunodeficiency, isolated 300584
    Incontinentia pigmenti 308300
    IL12B 5q33.3 Immunodeficiency 29, mycobacteriosis 614890
    IL12RB1 19p13.11 Immunodeficiency 30 614891
    IL1RAPL1 Xp21.3-p21.2 Mental retardation, X-linked 21/34 300143
    IL1RN 2q13 Interleukin 1 receptor antagonist deficiency 612852
    Microvascular complications of diabetes 4 612628
    IL2R Xq13.1 Combined immunodeficiency, X-linked, moderate 312863
    Severe combined immunodeficiency, X-linked 300400
    INSR 19p13.2 Diabetes mellitus, insulin-resistant, with acanthosis nigricans 610549
    Hyperinsulinemic hypoglycemia, familial, 5 609968
    Leprechaunism 246200
    Rabson-Mendenhall syndrome 262190
    INVS 9q31.1 Nephronophthisis 2, infantile 602088
    IQCB1 3q13.33 Senior-Loken syndrome 5 609254
    ITGA6 2q31.1 Epidermolysis bullosa, junctional, with pyloric stenosis 226730
    ITGB4 17q25.1 Epidermolysis bullosa of hands and feet 131800
    Epidermolysis bullosa, junctional, non-Herlitz type 226650
    Epidermolysis bullosa, junctional, with pyloric atresia 226730
    IVD 15q15.1 Isovaleric acidemia 243500
    JAK3 19p13.11 SCID, autosomal recessive, T-negative/B-positive type 600802
    KCNJ1 11q24.3 Bartter syndrome, type 2 241200
    KDM5C Xp11.22 Mental retardation, X-linked, syndromic, Claes-Jensen type 300534
    L1CAM Xq28 Corpus callosum, partial agenesis of 304100
    CRASH syndrome 303350
    Hydrocephalus due to aqueductal stenosis 307000
    Hydrocephalus with congenital idiopathic intestinal pseudoobstruction 307000
    Hydrocephalus with Hirschsprung disease 307000
    MASA syndrome 303350
    LAMA2 6q22.33 Muscular dystrophy, congenital merosin-deficient 607855
    Muscular dystrophy, congenital, due to partial LAMA2 deficiency 607855
    LAMA3 18q11.2 Epidermolysis bullosa, generalized atrophic benign 226650
    Epidermolysis bullosa, junctional, Herlitz type 226700
    Laryngoonychocutaneous syndrome 245660
    LAMB2 3p21.31 Nephrotic syndrome, type 5, with or without ocular abnormalities 614199
    Pierson syndrome 609049
    LAMB3 1q32.2 Amelogenesis imperfecta, type IA 104530
    Epidermolysis bullosa, junctional, Herlitz type 226700
    Epidermolysis bullosa, junctional, non-Herlitz type 226650
    LAMC2 1q25.3 Epidermolysis bullosa, junctional, Herlitz type 226700
    Epidermolysis bullosa, junctional, non-Herlitz type 226650
    LARGE 22q12.3

    Muscular dystrophy-dystroglycanopathy (congenital with brain and eye

     

    anomalies), type A, 6

    613154

    Muscular dystrophy-dystroglycanopathy (congenital with mental

     

    retardation), type B, 6

    608840
    LBR 1q42.12 Reynolds syndrome 613471
    Greenberg skeletal dysplasia 215140
    Pelger-Huet anomaly 169400
    LEPRE1 1p34.2 Osteogenesis imperfecta, type VIII 610915
    LHCGR 2p16.3 Leydig cell adenoma, somatic, with precocious puberty 176410
    Leydig cell hypoplasia with hypergonadotropic hypogonadism 238320
    Leydig cell hypoplasia with pseudohermaphroditism 238320
    Luteinizing hormone resistance, female 238320
    Precocious puberty, male 176410
    LHX3 9q34.3 Pituitary hormone deficiency, combined, 3 221750
    LIFR 5p13.1 Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome 601559
    LIG4 13q33.3 LIG4 syndrome 606593
    LRP2 2q31.1 Donnai-Barrow syndrome 222448
    LRPPRC 2p21 Leigh syndrome, French-Canadian type 220111
    LYST 1q42.3 Chediak-Higashi syndrome 214500
    MAN2B1 19p13.2 Mannosidosis, alpha-, types I and II 248500
    MBTPS2 Xp22.12-p22.11 Olmsted syndrome, X-linked 300918
    IFAP syndrome with or without BRESHECK syndrome 308205
    Keratosis follicularis spinulosa decalvans, X-linked 308800
    MCOLN1 19p13.2 Mucolipidosis IV 252650
    MECP2 Xq28 Angelman syndrome 105830
    Encephalopathy, neonatal severe 300673
    Mental retardation, X-linked syndromic, Lubs type 300260
    Mental retardation, X-linked, syndromic 13 300055
    Rett syndrome 312750
    Rett syndrome, preserved speech variant 312750
    Autism susceptibility, X-linked 3 300496
    MED12 Xq13.1 Lujan-Fryns syndrome 309520
    Ohdo syndrome, X-linked 300895
    Opitz-Kaveggia syndrome 305450
    MEFV 16p13.3 Familial Mediterranean fever, AD 134610
    Familial Mediterranean fever, AR 249100
    MFSD8 4q28.2 Ceroid lipofuscinosis, neuronal, 7 610951
    Macular dystrophy with central cone involvement 616170
    MGAT2 14q21.3 Congenital disorder of glycosylation, type IIa 212066
    MID1 Xp22.2 Opitz GBBB syndrome, type I 300000
    MKS1 17q22 Bardet-Biedl syndrome 13 615990
    Meckel syndrome 1 249000
    MLC1 22q13.33 Megalencephalic leukoencephalopathy with subcortical cysts 604004
    MMAA 4q31.21 Methylmalonic aciduria, vitamin B12-responsive 251100
    MMAB 12q24.11

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

     

    of adenosylcobalamin, cblB complementation type

    251110
    MMACHC 1p34.1 Methylmalonic aciduria and homocystinuria, cblC type 277400
    MOCS1 6p21.2 Molybdenum cofactor deficiency A 252150
    MOCS2 5q11.2 Molybdenum cofactor deficiency B 252160
    MOGS 2p13.1 Congenital disorder of glycosylation, type IIb 606056
    MPDU1 17p13.1 Congenital disorder of glycosylation, type If 609180
    MPI 15q24.1 Congenital disorder of glycosylation, type Ib 602579
    MPL 1p34.2 Myelofibrosis with myeloid metaplasia, somatic 254450
    Thrombocythemia 2 601977
    Thrombocytopenia, congenital amegakaryocytic 604498
    MPV17 2p23.3 Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) 256810
    MPZ 1q23.3 Charcot-Marie-Tooth disease, dominant intermediate D 607791
    Charcot-Marie-Tooth disease, type 1B 118200
    Charcot-Marie-Tooth disease, type 2I 607677
    Charcot-Marie-Tooth disease, type 2J 607736
    Dejerine-Sottas disease 145900
    Neuropathy, congenital hypomyelinating 605253
    Roussy-Levy syndrome 180800
    MRPS16 10q22.2 Combined oxidative phosphorylation deficiency 2 610498
    MRPS22 3q23 Combined oxidative phosphorylation deficiency 5 611719
    MTM1 Xq28 Myotubular myopathy, X-linked 310400
    MUT 6p12.3 Methylmalonic aciduria, mut(0) type 251000
    MVK 12q24.11 Hyper-IgD syndrome 260920
    Mevalonic aciduria 610377
    Porokeratosis 3, disseminated superficial actinic 175900
    MYD88 3p22.2 Macroglobulinemia, Waldenstrom, somatic 153600
    Pyogenic bacterial infections, recurrent, due to MYD88 deficiency 612260
    MYO5A 15q21.2 Griscelli syndrome, type 1 214450
    MYO7A 11q13.5 Deafness, autosomal dominant 11 601317
    Deafness, autosomal recessive 2 600060
    Usher syndrome, type 1B 276900
    NAGLU 17q21.2 Mucopolysaccharidosis type IIIB (Sanfilippo B) 252920
    NAGS 17q21.31 N-acetylglutamate synthase deficiency 237310
    NBN 8q21.3 Aplastic anemia 609135
    Leukemia, acute lymphoblastic 613065
    Nijmegen breakage syndrome 251260
    NDP Xp11.3 Exudative vitreoretinopathy 2, X-linked 305390
    Norrie disease 310600
    NDUFA1 Xq24 Mitochondrial complex I deficiency 252010
    NDUFA7 19p13.3 Mitochondrial Complex 1 Deficiency (MT-C1D) 252010
    NDUFAF 5q12.1 Leigh syndrome 256000
    NDUFAF4 6q16.1 Mitochondrial complex I deficiency 252010
    NDUFS3 11p11.2 Leigh syndrome due to mitochondrial complex I deficiency 256000
    Mitochondrial complex I deficiency 252010
    NDUFS4 5q11.2 Leigh syndrome 256000
    Mitochondrial complex I deficiency 252010
    NDUFS5 1p34.3 Mitochondrial complex I deficiency 252010
    NDUFS6 5p15.33 Complex I, mitochondrial respiratory chain, deficiency of 252010
    NDUFS7 19p13.3 Leigh syndrome 256000
    NDUFS8 11q13.2 Leigh syndrome due to mitochondrial complex I deficiency 256000
    NDUFV1 11q13.2 Mitochondrial complex I deficiency 252010
    NEB 2q23.3 Nemaline myopathy 2, autosomal recessive 256030
    NEU1 6p21.33 Sialidosis, type I 256550
    Sialidosis, type II 256550
    NEUROG3 10q22.1 Diarrhea 4, malabsorptive, congenital 610370
    NHEJ1 2q35

    Severe combined immunodeficiency with microcephaly, growth retardation,

     

    and sensitivity to ionizing radiation

    611291
    NHLRC1 6p22.3 Epilepsy, progressive myoclonic 2B (Lafora) 254780
    NHS Xp22.13 Cataract 40, X-linked 302200
    Nance-Horan syndrome 302350
    NLGN4X Xp22.32-p22.31 Mental retardation, X-linked 300495
    Asperger syndrome susceptibility, X-linked 2 300497
    Autism susceptibility, X-linked 2 300495
    NPC1 18q11.2 Niemann-Pick disease, type C1 257220
    Niemann-Pick disease, type D 257220
    NPC2 14q24.3 Niemann-pick disease, type C2 607625
    NPHP1 2q13 Joubert syndrome 4 609583
    Nephronophthisis 1, juvenile 256100
    Senior-Loken syndrome-1 266900
    NPHP3 3q22.1 Meckel syndrome 7 267010
    Nephronophthisis 3 604387
    Renal-hepatic-pancreatic dysplasia 1 208540
    NPHP4 1p36.31 Nephronophthisis 4 606966
    Senior-Loken syndrome 4 606996
    NPHS1 19q13.12 Nephrotic syndrome, type 1 256300
    NPHS2 1q25.2 Nephrotic syndrome, type 2 600995
    NR5A1 9q33.3 46XY sex reversal 3 612965
    Adrenocortical insufficiency
    Premature ovarian failure 7 612964
    Spermatogenic failure 8 613957
    NSD1 5q35.2-q35.3 Beckwith-Wiedemann syndrome 130650
    Leukemia, acute myeloid 601626
    Sotos syndrome 1 117550
    NSUN2 5p15.31 Mental retardation, autosomal recessive 5 611091
    NTRK1 1q23.1 Insensitivity to pain, congenital, with anhidrosis 256800
    NUP62 19q13.33 Striatonigral degeneration, infantile 271930
    NXF5 Xq22.1 Nuclear RNA export factor 5 300319
    OCRL Xq25-q26 Dent disease 2 300555
    Lowe syndrome 309000
    OFD1 Xp22.2 Retinitis pigmentosa 23 300424
    Joubert syndrome 10 300804
    Orofaciodigital syndrome I 311200
    Simpson-Golabi-Behmel syndrome, type 2 300209
    OPA3 19q13.32 Optic atrophy 3 with cataract 165300
    OPHN1 Xq12

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

     

    appearance

    300486
    ORAI1 12q24.31 Immunodeficiency 9 612782
    Myopathy, tubular aggregate, 2 615883
    OSTM1 6q21 Osteopetrosis, autosomal recessive 5 259720
    OTC Xp11.4 Ornithine transcarbamylase deficiency 311250
    PAH 12q23.2 Phenylketonuria 261600
    PAK3 Xq23 Mental retardation, X-linked 30/47 300558
    PANK2 20p13 HARP syndrome 607236
    PC 11q13.2 Pyruvate carboxylase deficiency 266150
    PCCA 13q32.3 Propionicacidemia 606054
    PCCB 3q22.3 Propionicacidemia 606054
    PCDH19 Xq22.1 Epileptic encephalopathy, early infantile, 9 300088
    PDHA1 Xp22.12 Pyruvate dehydrogenase E1-alpha deficiency 312170
    PDHX 11p13 Lacticacidemia due to PDX1 deficiency 245349
    PDP1 8q22.1 Pyruvate dehydrogenase phosphatase deficiency 608782
    PDSS1 10p12.1 Coenzyme Q10 deficiency, primary, 2 614651
    PDSS2 6q21 Coenzyme Q10 deficiency, primary, 3 614652
    PEX1 7q21.2 Peroxisome biogenesis disorder 1A (Zellweger) 214100
    Peroxisome biogenesis disorder 1B (NALD/IRD) 601539
    PEX10 1p36.32 Peroxisome biogenesis disorder 6A (Zellweger) 614870
    Peroxisome biogenesis disorder 6B 614871
    PEX12 17q12 Peroxisome biogenesis disorder 3A (Zellweger 614859
    Peroxisome biogenesis disorder 3B 266510
    PEX13 2p16.1 Peroxisome biogenesis disorder 11A (Zellweger 614883
    Peroxisome biogenesis disorder 11 B 614885
    PEX26 22q11.21 Peroxisome biogenesis disorder 7A (Zellweger) 614872
    Peroxisome biogenesis disorder 7B 614873
    PEX5 3q26.33 Peroxisome biogenesis disorder 7B 611058
    PEX7 6q23.3 Peroxisome biogenesis disorder 9B 614879
    Rhizomelic chondrodysplasia punctata, type 1 215100
    PKHD1 6p12.3-p12.2 Polycystic kidney and hepatic disease 263200
    PKLR 1q22 Adenosine triphosphate, elevated, of erythrocytes 102900
    Pyruvate kinase deficiency 266200
    PLA2G6 22q13.1 Infantile neuroaxonal dystrophy 1 256600
    Neurodegeneration with brain iron accumulation 2B 610217
    Parkinson disease 14, autosomal recessive 612953
    PLCE1 10q23.33 Nephrotic syndrome, type 3 610725
    PLDN 15q21.1 Hermansky-pudlak syndrome 9 614171
    PLEC 8q24.3 Epidermolysis bullosa simplex with pyloric atresia 612138
    Epidermolysis bullosa simplex, Ogna type 131950
    Muscular dystrophy with epidermolysis bullosa simplex 226670
    Muscular dystrophy, limb-girdle, type 2Q 613723
    PLEKHG5 1p36.31 Charcot-Marie-Tooth disease, recessive intermediate C 615376
    Spinal muscular atrophy, distal, autosomal recessive, 4 611067
    PLG 6q26 Dysplasminogenemia 217090
    Plasminogen deficiency, type I 217090
    PLOD1 1p36.22 Ehlers-Danlos syndrome, type VI 225400
    PLP1 Xq22.2 Pelizaeus-Merzbacher disease 312080
    Spastic paraplegia 2, X-linked 312920
    PMM2 16p13.2 Congenital disorder of glycosylation, type Ia 212065
    PMP22 17p12 Charcot-Marie-Tooth disease, type 1A 118220
    Charcot-Marie-Tooth disease, type 1E 118300
    Dejerine-Sottas disease 145900
    Neuropathy, inflammatory demyelinating 139393
    Neuropathy, recurrent, with pressure palsies 162500
    Roussy-Levy syndrome 180800
    PNPO 17q21.32 Pyridoxamine 5′-phosphate oxidase deficiency 610090
    POLG 15q26.1 Mitochondrial 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 recessive 258450
    POMGNT1 1p34.1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 253280

    Muscular dystrophy-dystroglycanopathy (congenital with mental

     

    retardation), type B, 3

    613151
    Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3 613157
    POMT1 9q34.13

    Muscular dystrophy-dystroglycanopathy (congenital with brain and eye

     

    anomalies), type A, 1

    236670
    Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1 613155
    Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 609308
    POMT2 14q24.3 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 613150

    Muscular dystrophy-dystroglycanopathy (congenital with mental

     

    retardation), type B, 2

    613156
    Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 613158
    POR 7q11.23

    Antley-Bixler syndrome with genital anomalies and disordered

     

    steroidogenesis

    201750
    Disordered steroidogenesis due to cytochrome P450 oxidoreductase 613571
    POU1F1 3p11.2 Pituitary hormone deficiency, combined, 1 613038
    PPT1 1p34.2 Ceroid lipofuscinosis, neuronal, 1 256730
    PQBP1 Xp11.23 Renpenning syndrome 309500
    PRF1 10q22.1 Hemophagocytic lymphohistiocytosis, familial, 2 603553
    Lymphoma, non-Hodgkin 605027
    PROP1 5q35.3 Pituitary hormone deficiency, combined, 2 262600
    PRPS1 Xq22.3 Arts syndrome 301835
    Charcot-Marie-Tooth disease, X-linked recessive, 5 311070
    Deafness, X-linked 1 304500
    Gout, PRPS-related 300661
    Phosphoribosylpyrophosphate synthetase superactivity 300661
    PRSS12 4q26 Mental retardation, autosomal recessive 1 249500
    PRX 19q13.2 Charcot-Marie-Tooth disease, type 4F 614895
    Dejerine-Sottas disease 145900
    PSAP 10q22.1 Combined SAP deficiency 611721
    Gaucher disease, atypical 610539
    Krabbe disease, atypical 611722
    Metachromatic leukodystrophy due to SAP-b deficiency 249900
    PTEN 10q23.31 Bannayan-Riley-Ruvalcaba syndrome 153480
    Cowden syndrome 1 158350
    Lhermitte-Duclos syndrome 158350
    Macrocephaly/autism syndrome 605309
    VATER association with macrocephaly and ventriculomegaly 276950
    PTH1R 3p21.31 Chondrodysplasia, Blomstrand type 215045
    Eiken syndrome 600002
    Failure of tooth eruption, primary 125350
    Metaphyseal chondrodysplasia, Murk Jansen type 156400
    PYGM 11q13.1 McArdle disease 232600
    RAB23 6p11.2 Carpenter syndrome 201000
    RAB27A 15q21.3 Griscelli syndrome, type 2 607624
    RAB39B Xq28 Waisman syndrome 311510
    Mental retardation, X-linked 72 300271
    RAB3GAP1 2q21.3 Warburg micro syndrome 1 600118
    RAB3GAP2 1q41 Martsolf syndrome 212720
    Warburg micro syndrome 2 614225
    RAG1 11p12 Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion.. 609889
    Combined cellular and humoral immune defects with granulomas 233650
    Omenn syndrome 603554
    Severe combined immunodeficiency, B cell-negative 601457
    RAG2 11p12 Combined cellular and humoral immune defects with granulomas 233650
    Omenn syndrome 603554
    Severe combined immunodeficiency, B cell-negative 601457
    RAPSN 11p11.2 Fetal akinesia deformation sequence 208150
    Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency 616326
    RELN 7q22.1 Lissencephaly 2 (Norman-Roberts type) 257320
    Epilepsy, familial temporal lobe, 7 616436
    RFT1 3p21.1 Congenital disorder of glycosylation, type In 612015
    RMRP 9p13.3 Anauxetic dysplasia 607095
    Cartilage-hair hypoplasia 250250
    Metaphyseal dysplasia without hypotrichosis 250460
    RNASEH2A 19p13.2 Aicardi-Goutieres syndrome 4 610333
    RNASEH2B 13q14.3 Aicardi-Goutieres syndrome 2 610181
    RNASEH2C 11q13.1 Aicardi-Goutieres syndrome 3 610329
    RPGRIP1L 16q12.2 COACH syndrome 216360
    Joubert syndrome 7 611560
    Meckel syndrome 5 611561
    RPL10 Xq28 Autism, susceptibility to, X-linked 5 300847
    RPS6KA3 Xp22.12 Coffin-Lowry syndrome 303600
    Mental retardation, X-linked 19 300844
    RRM2B 8q22.3

    Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with

     

    renal tubulopathy)

    612075
    Mitochondrial DNA depletion syndrome 8B (MNGIE type) 612075
    SACS 13q12.12 Spastic ataxia, Charlevoix-Saguenay type 270550
    SAMHD1 20q11.23 Aicardi-Goutieres syndrome 5 612952
    Chilblain lupus 2 614415
    SBDS 7q11.21 Shwachman-Bodian-Diamond syndrome 260400
    SC5DL 11q23.3 Lathosterolosis 607330
    SCNN1A 12p13.31 Bronchiectasis with or without elevated sweat chloride 2 613021
    Pseudohypoaldosteronism, type I 264350
    SCNN1B 16p12.2 Bronchiectasis with or without elevated sweat chloride 1 211400
    Liddle syndrome 177200
    Pseudohypoaldosteronism, type I 264350
    SCNN1G 16p12.2 Bronchiectasis with or without elevated sweat chloride 3 613071
    Liddle syndrome 177200
    Pseudohypoaldosteronism, type I 264350
    SCO1 17p13.1 Hepatic failure, early onset, and neurologic disorder 603644
    SCO2 22q13.33

    Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase

     

    deficiency 1

    604377
    Myopia 6 608908
    SEPN1 1p36.11 Muscular dystrophy, rigid spine, 1 602771
    Myopathy, congenital, with fiber-type disproportion 255310
    SFTPB 2p11.2 Surfactant metabolism dysfunction, pulmonary, 1 265120
    SFTPC 8p21.3 Surfactant metabolism dysfunction, pulmonary, 2 610913
    SGSH 17q25.3 Mucopolysaccharidisis type IIIA (Sanfilippo A) 252900
    SH2D1A Xq25 Lymphoproliferative syndrome, X-linked, 1 308240
    SHROOM4 Xp11.22 Stocco dos Santos X-linked mental retardation syndrome 300434
    SIL1 5q31.2 Marinesco-Sjogren syndrome 248800
    SLC12A1 15q21.1 Bartter syndrome, type 1 601678
    SLC12A6 15q14 Agenesis of the corpus callosum with peripheral neuropathy 218000
    SLC16A2 Xq13.2 Allan-Herndon-Dudley syndrome 300523
    SLC17A5 6q13 Salla disease 604369
    Sialic acid storage disorder, infantile 269920
    SLC22A5 5q31.1 Carnitine deficiency, systemic primary 212140
    SLC25A15 13q14.11 Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome 238970
    SLC25A20 3p21.31 Carnitine-acylcarnitine translocase deficiency 212138
    SLC25A22 11p15.5 Epileptic encephalopathy, early infantile, 3 609304
    SLC26A2 5q32 Achondrogenesis Ib 600972
    Atelosteogenesis II 256050
    De la Chapelle dysplasia 256050
    Diastrophic dysplasia 222600
    Diastrophic dysplasia, broad bone-platyspondylic variant 222600
    Epiphyseal dysplasia, multiple, 4 226900
    SLC35A1 6q15 Congenital disorder of glycosylation, type IIf 603585
    SLC35C1 11p11.2 Congenital disorder of glycosylation, type IIc 266265
    SLC35D1 1p31.3 Schneckenbecken dysplasia 269250
    SLC37A4 11q23.3 Glycogen storage disease Ib 232220
    Glycogen storage disease Ic 232240
    SLC4A11 20p13 Corneal dystrophy, Fuchs endothelial, 4 613268
    Corneal endothelial dystrophy 2, autosomal recessive 217700
    Corneal endothelial dystrophy and perceptive deafness 217400
    SLC6A8 Xq28 Cerebral creatine deficiency syndrome 1 300352
    SLC9A6 Xq26.3 Mental retardation, X-linked syndromic, Christianson type 300243
    SMN1 5q13.2 Spinal muscular atrophy-1 253300
    Spinal muscular atrophy-2 253550
    Spinal muscular atrophy-3 253400
    Spinal muscular atrophy-4 271150
    SMPD1 11p15.4 Niemann-Pick disease, type A 257200
    Niemann-Pick disease, type B 607616
    SMS Xp22.11 Mental retardation, X-linked, Snyder-Robinson type 309583
    SNAP29 22q11.21 Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma 609528
    SOX3 Xq27.1 Mental retardation, X-linked, with isolated growth hormone deficiency 300123
    Panhypopituitarism, X-linked 312000
    SP110 2q37.1 Hepatic venoocclusive disease with immunodeficiency 235550
    SRD5A2 2p23.1 Pseudovaginal perineoscrotal hypospadias 264600
    SRD5A3 4q12 Congenital disorder of glycosylation, type Iq 612379
    Kahrizi syndrome 612713
    ST3GAL3 1p34.1 Epileptic encephalopathy, early infantile, 15 615006
    Mental retardation, autosomal recessive 12 611090
    ST3GAL5 2p11.2 Amish infantile epilepsy syndrome 609056
    STAR 8p11.23 Lipoid adrenal hyperplasia 201710
    STAT1 2q32.2 Immunodeficiency 31B, mycobacterial and viral infections, autosomal reces. 613796
    STIM1 11p15.4 Immunodeficiency 10 612783
    Myopathy, tubular aggregate, 1 160565
    Stormorken syndrome 185070
    STRA6 15q24.1 Microphthalmia, isolated, with coloboma 8 601186
    Microphthalmia, syndromic 9 601186
    STX11 6q24.2 Hemophagocytic lymphohistiocytosis, familial, 4 603552
    STXBP2 19p13.2 Hemophagocytic lymphohistiocytosis, familial, 5 613101
    SUCLA2 13q14.2

    Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or

     

    without methylmalonic aciduria)

    612073
    SUCLG1 2p11.2 Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) 245400
    SUOX 12q13.2 Sulfite oxidase deficiency 272300
    SURF1 9q34.2 Leigh syndrome, due to COX deficiency 256000
    SYP Xp11.23 Mental retardation, X-linked 96 300802
    TAT 16q22.2 Tyrosinemia, type II 276600
    TAZ Xq28 Barth syndrome 302060
    TBCE 1q42.3 Hypoparathyroidism-retardation-dysmorphism syndrome 241410
    Kenny-Caffey syndrome-1 244460
    TCF4 18q21.2 Pitt-Hopkins syndrome 610954
    TCIRG1 11q13.2 Osteopetrosis, autosomal recessive 1 259700
    TGM1 14q12 Ichthyosis, congenital, autosomal recessive 1 242300
    TH 11p15.5 Segawa syndrome, recessive 605407
    TIMM8A Xq22.1 Deafness, X-linked 1, progressive 300066
    Jensen syndrome 311150
    Mohr-Tranebjaerg syndrome 304700
    TK2 16q21 Mitochondrial DNA depletion syndrome 2 (myopathic type) 609560
    TLR3 4q35.1 Herpes simplex encephalitis, susceptibility to, 2 613002
    HIV1 infection, resistance to 609423
    TMEM67 8q22.1 COACH syndrome 216360
    Joubert syndrome 6 610688
    Meckel syndrome 3 607361
    Nephronophthisis 11 613550
    Bardet-Biedl syndrome 14, modifier of 209900
    TNFRSF11B 8q24.12 Paget disease of bone 5, juvenile-onset 239000
    TPP1 11p15.4 Ceroid lipofuscinosis, neuronal, 2 204500
    Spinocerebellar ataxia, autosomal recessive 7 609270
    TRAPPC9 8q24.3 Mental retardation, autosomal recessive 13 613192
    TREX1 3p21.31 Aicardi-Goutieres syndrome 1, dominant and recessive 225750
    Chilblain lupus 610448
    Vasculopathy, retinal, with cerebral leukodystrophy 192315
    Systemic lupus erythematosus, susceptibility to 152700
    TRIM37 17q22 Mulibrey nanism 253250
    TSEN54 17q25.1 Pontocerebellar hypoplasia type 5 610204
    Pontocerebellar hypoplasia type 2A 277470
    Pontocerebellar hypoplasia type 4 225753
    TSFM 12q14.1 Combined oxidative phosphorylation deficiency 3 610505
    TSHB 1p13.2 Hypothryoidism, congenital, nongoitrous 4 275100
    TSPYL1 6q22.1 Sudden infant death with dysgenesis of the testes syndrome 608800
    TTPA 8q12.3 Ataxia with isolated vitamin E deficiency 277460
    TUBA1A 12q13.12 Lissencephaly 3 611603
    TUFM 16p11.2 Combined oxidative phosphorylation deficiency 4 610678
    TUSC3 8p22 Mental retardation, autosomal recessive 7 611093
    TYK2 19p13.2 Immunodeficiency 35 611521
    TYMP 22q13.33 Mitochondrial DNA depletion syndrome 1 (MNGIE type) 603041
    UBA1 Xp11.23 Spinal muscular atrophy, X-linked 2, infantile 301830
    UBE2A Xq24 Mental retardation, X-linked syndromic, Nascimento-type 300860
    UBE3A 15q11.2 Angelman syndrome 105830
    UBR1 15q15.2 Johanson-Blizzard syndrome 243800
    UNC13D 17q25.1 Hemophagocytic lymphohistiocytosis, familial, 3 608898
    UNC93B1 11q13.2 Herpes simplex encephalitis, susceptibility to, 1 610551
    UPF3B Xq24 Mental retardation, X-linked, syndromic 14 300676
    UQCRB 8q22.1 Mitochondrial complex III deficiency, nuclear type 3 615158
    UQCRQ 5q31.1 Mitochondrial complex III deficiency, nuclear type 4 615159
    UROS 10q26.1-q26.2 Porphyria, congenital erythropoietic 263700
    USH1C 11p15.1 Deafness, autosomal recessive 18A 602092
    Usher syndrome, type 1C 276904
    USH1G 17q25.1 Usher syndrome, type 1G 606943
    USH2A 1q41 Retinitis pigmentosa 39 613809
    Usher syndrome, type 2A 276901
    VDR 12q13.11 Osteoporosis, involutional 166710
    Rickets, vitamin D-resistant, type IIA 277440
    VIPAR 14q24.3 Arthrogryposis, renal dysfunction, and cholestasis 2 613404
    VLDLR 9p24.2

    Cerebellar hypoplasia and mental retardation with or without quadrupedal

     

    locomotion 1

    224050
    VPS13B 8q22.2 Cohen syndrome 216550
    VPS33B 15q26.1 Arthrogryposis, renal dysfunction, and cholestasis 1 208085
    WAS Xp11.23 Neutropenia, severe congenital, X-linked 300299
    Thrombocytopenia, X-linked 313900
    Thrombocytopenia, X-linked, intermittent 313900
    Wiskott-Aldrich syndrome 301000
    WNT10A 2q35 Odontoonychodermal dysplasia 257980
    Schopf-Schulz-Passarge syndrome 224750
    Tooth agenesis, selective, 4 150400
    WNT3 17q21.31 Tetra-amelia syndrome 273395
    WNT7A 3p25.1 Fuhrmann syndrome 228930
    Ulna and fibula, absence of, with severe limb deficiency 276820
    XIAP Xq25 Lymphoproliferative syndrome, X-linked, 2 300635
    XPA 9q22.33 Xeroderma pigmentosum, group A 278700
    XPC 3p25.1 Xeroderma pigmentosum, group C 278720
    ZDHHC9 Xq26.1 Mental retardation, X-linked syndromic, Raymond type 300799
    ZEB2 2q22.3 Mowat-Wilson syndrome 235730
    ZIC3 Xq26.3 Congenital heart defects, nonsyndromic, 1, X-linked 306955
    Heterotaxy, visceral, 1, X-linked 306955
    VACTERL association, X-linked 314390
    ZMPSTE24 1p34.2 Mandibuloacral dysplasia with type B lipodystrophy 608612
    Restrictive dermopathy, lethal 275210
    ZNF41 Xp11.23 Zinc Finger Protein 41 314995
    ZNF469 16q24.2 Brittle cornea syndrome 1 229200
    ZNF674 Xp11.3-p11.2 Zinc Finger Protein 674 300573
    ZNF711 Xq21.1 Mental retardation, X-linked 97 300803
    COL1A1 17q21.33 Caffey disease 114000
    Ehlers-Danlos syndrome, classic 130000
    Ehlers-Danlos syndrome, type VIIA 130060
    Osteogenesis imperfecta, type I 166200
    Osteogenesis imperfecta, type II 166210
    Osteogenesis imperfecta, type III 259420
    Osteogenesis imperfecta, type IV 166220
    Bone mineral density variation QTL, osteoporosis 166710
    COL1A2 7q21.3 Ehlers-Danlos syndrome, cardiac valvular form 225320
    Ehlers-Danlos syndrome, type VIIB 130060
    Osteogenesis imperfecta, type II 166210
    Osteogenesis imperfecta, type III 259420
    Osteogenesis imperfecta, type IV 166220
    Osteoporosis, postmenopausal 166710
    COL6A1 21q22.3 Bethlem myopathy 158810
    Ullrich congenital muscular dystrophy 254090
    COL6A2 21q22.3 Myosclerosis, congenital 255600
    Bethlem myopathy 158810
    Ullrich congenital muscular dystrophy 254090
    COL6A3 2q37.3 Bethlem myopathy 158810
    Dystonia 27 616411
    Ullrich congenital muscular dystrophy 254090
    DOK7 4p16.3 Fetal akinesia deformation sequence 208150
    Myasthenic syndrome, congenital, 10 254300
    G6PC 17q21.31 Glycogen storage disease Ia 232200
    HIBCH 2q32.2 3-hydroxyisobutryl-CoA hydrolase deficiency 250620
    LMNA 1q22 Cardiomyopathy, dilated, 1A 115200
    Charcot-Marie-Tooth disease, type 2B1 605588
    Emery-Dreifuss muscular dystrophy 2, AD 181350
    Emery-Dreifuss muscular dystrophy 3, AR 181350
    Heart-hand syndrome, Slovenian type 610140
    Hutchinson-Gilford progeria 176670
    Lipodystrophy, familial partial, 2 151660
    Malouf syndrome 212112
    Mandibuloacral dysplasia 248370
    Muscular dystrophy, congenital 613205
    Muscular dystrophy, limb-girdle, type 1B 159001
    Restrictive dermopathy, lethal 275210
    OXCT1 5p13.1 Succinyl CoA:3-oxoacid CoA transferase deficiency 245050
    UBE3A 15q11.2 Angelman syndrome 105830

     

     

    ¿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?

    Escríbenos a: gaia@clinicafertilidadgaia.com

    ó llámanos — (+34) 633 06 08 66