Matching genético

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Matching genético2018-05-03T12:17:58+00:00

El matching genético compara la información genética de donantes y receptores/as con objeto de prevenir la transmisión de enfermedades genéticas recesivas.

Cuando recibimos una solicitud de muestras de semen u ovocitos con matching genético, procedemos con una minuciosa selección del donante más idóneo/a de manera que donante y receptor/a  no compartan mutaciones patogénicas en los mismos genes.

 (El protocolo de matching genético no anula el riesgo en la descendencia de padecer o ser portador de enfermedades recesivas, incluso si se trata de alguna de las enfermedades estudiadas. Su objetivo es la disminución significativa de riesgos, dependiendo esta disminución de la enfermedad estudiada).

Protocolo

Se lleva a cabo el estudio de 307 genes de enfermedades monogénicas autosómicas recesivas. Entre los 307 genes estudiados se incluyen variantes con incidencia especialmente elevada en la zona mediterránea.
Este análisis se realiza empleando las más modernas técnicas de secuenciación masiva (Next Generation Sequencing – NGS).

GENES ESTUDIADOS

EnfermedadGen
17-beta-hydroxysteroid dehydrogenase X deficiency HSD17B10
2-methylbutyrylglycinuria ACADSB
3-Methylcrotonyl-CoA carboxylase 1 deficiency MCCC1
3-Methylcrotonyl-CoA carboxylase 2 deficiency MCCC2
Aarskog-Scott syndrome, Mental retardation, X-linked syndromic 16 FGD1
Achondrogenesis Ib SLC26A2
Achromatopsia-3 CNGB3
Acyl-CoA dehydrogenase, medium chain, deficiency of ACADM
Acyl-CoA dehydrogenase, short-chain, deficiency of ACADS
Acyl-CoA dehydrogenase, short-chain, deficiency of CYP17A1
Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency CYP21A2
Adrenoleukodystrophy ABCD1
Alkaptonuria HGD
Allan-Herndon-Dudley syndrome SLC16A2
Alpha-methylacetoacetic aciduria ACAT1
Alpha-thalassemia/mental retardation syndrome ATRX
Alport syndrome, autosomal recessive, COL4A4 related
Anauxetic dysplasia RMRP
Androgen insensitivity AR
Argininemia ARG1
Argininosuccinic aciduria ASL
Arts Syndrome PRPS1
Aspartylglucosaminuria AGA
Ataxia with isolated vitamin E deficiency TTPA
Ataxia-telangiectasia ATM
Auditory neuropathy, autosomal recessive, 1 OTOF
Autoimmune polyendocrinopathy syndrome, type I, with or without reversible metaphyseal dysplasia AIRE
Autosomal Recessive Polycystic Kidney Disease (ARPKD) PKHD1
Bardet-Biedl syndrome 1 BBS1
Bardet-Biedl syndrome 10 BBS10
Bardet-Biedl syndrome 14, Joubert syndrome 5, Meckel syndrome 4, Senior-Loken syndrome 6 CEP290
Bardet-Biedl syndrome 2 BBS2
Bartter syndrome, type 4a BSND
Biotinidase deficiency BTD
Bjornstad syndrome BCS1L
Canavan disease ASPA
Carbamoylphosphate synthetase I deficiency CPS1
Carnitine deficiency, systemic primary SLC22A5
Carnitine-acylcarnitine translocase deficiency SLC25A20
Cerebral creatine deficiency syndrome 1 SLC6A8
Cerebrotendinous xanthomatosis CYP27A1
Ceroid lipofuscinosis, neuronal, 5 CLN5
Ceroid lipofuscinosis, neuronal, 8 CLN8
Ceroid lipofuscinosis, neuronal, 10 CTSD
Ceroid lipofuscinosis, neuronal, 3 CLN3
Ceroid lipofuscinosis, neuronal, 6, 601780 CLN6
Ceroid lipofuscinosis, neuronal, 7 MFSD8
Ceroid lipofuscinosis, neuronal, type 1 PPT1
Ceroid lipofuscinosis, neuronal, type 2 TPP1
Charcot-Marie-Tooth disease, type 4B1 MTMR2
Charcot-Marie-Tooth disease, type 4C SH3TC2
Charcot-Marie-Tooth disease, type 4D NDRG1
Charcot-Marie-Tooth Neuropathy Type 4A GDAP1
Cholestasis, benign recurrent intrahepatic, 2 ABCB11
Citrullinemia ASS1
Citrullinemia, neonatal-onset type II SLC25A13
Coffin-Lowry syndrome RPS6KA3
Combined malonic and methylmalonic acidemia ACSF3
Cone rod dystrophy 3 ABCA4
Cone-rod dystrophy, X-linked, 1 RPGR
Congenital disorder of glycosylation, type Ia PMM2
Corneal endothelial dystrophy and sensorineural deafness (CDPD) SLC4A11
CPT I (Carnitine Palmitoyltransferase IA) deficiency, hepatic, type IA CPT1A
CPT II (Carnitine Palmitoyltransferase) deficiency, lethal neonatal CPT2
CRASH/ MASA syndrome L1CAM
Cystathioninuria CTH
Cystic fibrosis, Congenital bilateral absence of vas deferens CFTR
Cystinosis, atypical nephropathic CTNS
Cystinuria SLC3A1
Cystinuria SLC7A9
Deafness, autosomal recessive 1A (DFNB1-related) GJB2
Deafness, autosomal recessive 12 CDH23
Deafness, autosomal recessive 18A USH1C
Deafness, autosomal recessive 23 PCDH15
Deafness, autosomal recessive 4, with enlarged vestibular aqueduct SLC26A4
Deafness, digenic GJB2/GJB3 GJB3
Dent disease 2 OCRL
Dihydrolipoamide dehydrogenase deficiency DLD
Duchenne muscular dystrophy, Becker muscular dystrophy DMD
Dysprothrombinemia, Prothrombin thrombophilia / Factor II deficiency F2
Ehlers-Danlos syndrome, type VI PLOD1
Ellis-van Creveld Syndrome EVC2
Emphysema due to Alpha1 Anti-Trypsin deficiency SERPINA1
Epidermolysis bullosa dystrophica, AR COL7A1
Epidermolysis bullosa, junctional, Herlitz type LAMB3
Epilepsy, X-linked, with variable learning disabilities and behavior disorders SYN1
Epileptic encephalopathy, early infantile, 1 ARX
Ethylmalonic encephalopathy ETHE1
Fabry disease GLA
Factor V Deficiency F5
Factor XI deficiency, autosomal recessive F11
Familial Mediterranean fever, autosomal recessive MEFV
Fanconi anemia FANCA
Fanconi anemia, complementation group C FANCC
Folate malabsorption, hereditary SLC46A1
Fragile X syndrome FMR1
Friedreich ataxia with retained reflexes FXN
Fructose intolerance ALDOB
Fumarase deficiency FH
G6PD deficiency / Favism G6PD
Galactokinase deficiency with cataracts GALK1
Galactose epimerase deficiency GALE
Galactosemia GALT
Gaucher disease, perinatal lethal GBA
Glutamate formiminotransferase deficiency FTCD
Glutaric acidemia IIA ETFA
Glutaric acidemia IIB ETFB
Glutaric acidemia IIC ETFDH
Glutaric aciduria, type I GCDH
Glycine encephalopathy AMT
Glycine encephalopathy GLDC
Glycogen storage disease Ia G6PC
Glycogen storage disease Ib SLC37A4
Glycogen storage disease II / Pompe disease GAA
Glycogen storage disease IIIa AGL
Glycogen storage disease IV GBE1
GM1-gangliosidosis, types I, II, III GLB1
Goldmann-Favre syndrome NR2E3
HARP syndrome PANK2
Hartnup disorder SLC6A19
Heimler syndrome, type 2 PEX6
Hemochromatosis, type 3 TFR2
Hemochromatosis: Type 2A: HFE2 Related HFE2
Hemophilia A, factor VIII deficiency, X-linked F8
Hemophilia B, factor IX deficiency F9
Herlitz Junctional Epidermolysis Bullosa: LAMC2 Related LAMC2
Histidinemia HAL
HMG-CoA lyase deficiency HMGCL
Holocarboxylase synthetase deficiency HLCS
Homocystinuria, B6-responsive and nonresponsive types CBS
Homocystinuria-megaloblastic anemia, cbl E type MTRR
Hypercholesterolemia, familial LDLR
Hypercholesterolemia, familial, autosomal recessive LDLRAP1
Hyperinsulinemic hypoglycemia, familial, type 2 KCNJ11
Hypermethioninemia due to adenosine kinase deficiency ADK
Hypermethioninemia due to Glycine N-methyltransferase deficiency GNMT
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase AHCY
Hypermethioninemia, persistent, due to MAT1 deficiency MAT1A
Hyperoxaluria III HOGA1
Hyperoxaluria, primary, type I AGXT
Hyperoxaluria, primary, type II GRHPR
Hyperphenylalaninemia, BH4-deficient, A PTS
Hyperphenylalaninemia, BH4-deficient, C QDPR
Hyperphenylalaninemia, BH4-deficient, D PCBD1
Hyperprolinemia, type II ALDH4A1
Hypogonadotropic hypogonadism 7 without anosmia GNRHR
Hypothryoidism, congenital, nongoitrous 4 TSHB
Hypothyroidism, congenital, nongoitrous 1 TSHR
Ichthyosis, congenital, autosomal recessive 1 TGM1
Immunodeficiency, X-linked, with hyper-IgM CD40LG
Isovaleric acidemia IVD
Joubert syndrome 2 TMEM216
Joubert syndrome 4 NPHP1
Joubert syndrome 8 ARL13B
Joubert syndrome-3 AHI1
Krabbe disease GALC
LCHAD deficiency HADHA
Leber congenital amaurosis 13 RDH12
Leber congenital amaurosis 2 RPE65
Leber congenital amaurosis 8 CRB1
Leber congenital amaurosis-1 GUCY2D
Leber congenital amaurosis-4 AIPL1
Leigh syndrome, French-Canadian type LRPPRC
Leigh syndrome, due to COX deficiency SURF1
limb-girdle muscular dystrophy type 2B DYSF
Lipoid adrenal hyperplasia STAR
Lissencephaly, X-linked DCX
Macular corneal dystrophy CHST6
Malonyl-CoA decarboxylase deficiency, 248360 MLYCD
Mannosidosis, alpha-, types I and II MAN2B1
Maple syrup urine disease, type II DBT
Maple syrup urine disease, type IaBCKDHA
Maple syrup urine disease, type IbBCKDHB
McArdle disease / Glycogen Storage Disease: Type VPYGM
Meckel syndrome 1 MKS1
Mental retardation and microcephaly with pontine and cerebellar hypoplasia CASK
Mental retardation syndrome, X-linked, Siderius type PHF8
Mental retardation, X-linked OPHN1
Mental retardation, X-linked 1/78 IQSEC2
Mental retardation, X-linked 12/35 THOC2
Mental retardation, X-linked 21/34 IL1RAPL1
Mental retardation, X-linked 30/47 PAK3
Mental retardation, X-linked 41 GDI1
Mental retardation, X-linked 58 TSPAN7
Mental retardation, X-linked 63 ACSL4
Mental retardation, X-linked 9 FTSJ1
Mental retardation, X-linked 90 DLG3
Mental retardation, X-linked 94 GRIA3
Mental retardation, X-linked 97 ZNF711
Mental retardation, X-linked 99 USP9X
Mental retardation, X-linked syndromic 5 AP1S2
Mental retardation, X-linked syndromic, Raymond type ZDHHC9
Mental retardation, X-linked syndromic, Turner type HUWE1
Mental retardation, X-linked, Asperger syndrome susceptibility, X-linked NLGN4X
Mental retardation, X-linked, FRAXE type AFF2
Mental retardation, X-linked, syndromic 13 MECP2
Mental retardation, X-linked, syndromic 14 UPF3B
Mental retardation, X-linked, syndromic 15 CUL4B
Mental retardation, X-linked, syndromic, Claes-Jensen type KDM5C
Metachromatic leukodystrophy ARSA
Methylmalonic aciduria and homocystinuria, cblC type MMACHC
Methylmalonic aciduria and homocystinuria, cblD type MMADHC
Methylmalonic aciduria and homocystinuria, cblF type LMBRD1
Methylmalonic aciduria, vitamin B12-responsive, cbIB type MMAB
Methylmalonic aciduria, vitamin B12-responsive, cblA type MMAA
Methylmalonic aciduria, mut(0) type MUT
Methylmalonic and propionic acidemia and homocystinuria, cbIJ type ABCD4
Methylmalonyl-CoA epimerase deficiency MCEE
Mevalonic aciduria MVK
Microphthalmia, isolated 3 RAX
MTHFR Deficiency MTHFR
Mucolipidosis III alpha/beta, and type II GNPTAB
Mucolipidosis IV MCOLN1
Mucopolysaccharidosis Ih / Hurler Syndrome IDUA
Mucopolysaccharidosis II / Hunter Syndrome: X-linked IDS
Mucopolysaccharidosis IVA GALNS
Mucopolysaccharidosis type IIIA (Sanfilippo A) SGSH
Mucopolysaccharidosis type IIIB (Sanfilippo B), 252920 NAGLU
Mucopolysaccharidosis type IIIC (Sanfilippo C) HGSNAT
Mucopolysaccharidosis type IIID GNS
Mucopolysaccharidosis type VI (Maroteaux-Lamy) ARSB
Muscular dystrophy, limb-girdle, 2A CAPN3
Muscular dystrophy, limb-girdle, type 2D SGCA
Muscular dystrophy, limb-girdle, type 2E SGCB
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) POMGNT1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 POMT1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 POMT2
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 FKRP
Myotonia congenita, dominant CLCN1
Nemaline myopathy 2, autosomal recessive NEB
Nephrotic syndrome, type 1 (Finnish Type) NPHS1
Neutropenia, severe congenital 3, autosomal recessive HAX1
Niemann-Pick disease, type A SMPD1
Niemann-Pick Disease, Type C2 NPC2
Niemann-Pick Disease: Type C1 NPC1
Nijmegen breakage syndrome NBN
Norrie disease NDP
Nystagmus 6, congenital, X-linked GPR143
Ornithine transcarbamylase deficiency OTC
Osteogenesis imperfecta, type VIII P3H1
Pelizaeus-Merzbacher disease, 312080 PLP1
Peroxisomal acyl-CoA oxidase deficiency ACOX1
Peroxisome biogenesis disorde 6A, Zellweger syndrome PEX10
Peroxisome biogenesis disorder 1A, Zellweger syndrome-1 PEX1
Phenylketonuria PAH
Phosphoglycerate kinase 1 deficiency PGK1
Pituitary hormone deficiency, combined, 2 PROP1
Primary ciliary dyskinesia DNAH5
Propionic acidemia PCCA
Propionic acidemiaPCCB
Pyruvate carboxylase deficiency PC
Pyruvate dehydrogenase E1-beta deficiency PDHB
Renpenning syndrome PQBP1
Retinitis pigmentosa 2 RP2
Retinitis pigmentosa 25 EYS
Retinitis pigmentosa 26 CERKL
Retinitis pigmentosa 39 USH2A
Retinitis pigmentosa 43 PDE6A
Retinitis pigmentosa 45 CNGB1
Retinitis pigmentosa 46 IDH3B
Retinitis pigmentosa 49 CNGA1
Retinitis pigmentosa 59 DHDDS
Retinoschisis: X-linked RS1
Rhizomelic chondrodysplasia punctata, type 1; Peroxisome biogenesis disorder PEX7
Rhizomelic chondrodysplasia punctata, type 3 AGPS
Sandhoff disease, infantile, juvenile, and adult forms HEXB
SCID, autosomal recessive, T-negative/B-positive type JAK3
Segawa syndrome, recessive (tyrosine hydroxylase deficiency) TH
Severe combined immunodeficiency due to ADA deficiency ADA
Severe combined immunodeficiency, X-linked IL2RG
Smith-Lemli-Opitz syndrome DHCR7
Spastic ataxia, Charlevoix-Saguenay type (ARSACS) SACS
Spastic paraplegia 11, autosomal recessive SPG11
Spastic paraplegia 7, autosomal recessive SPG7
Spinalmuscle atrophy (several types) SMN1
Tay-Sachs disease, GM2-gangliosidisus, several forms HEXA
Thalassemia, alpha- HBA1
Thalassemia, alpha-HBA2
Thalassemias, beta- (Sickle Cell Anemia) HBB
Thrombocytopenia, congenital amegakaryocytic MPL
Thryoid dyshormonogenesis 6 DUOX2
Thyroid dyshormonogenesis 1 SLC5A5
Thyroid dyshormonogenesis 2A TPO
Thyroid dyshormonogenesis 3 TG
Thyroid dyshormonogenesis 4 IYD
Thyroid dyshormonogenesis 5 DUOXA2
Thyroid hormone resistance THRB
Treacher Collins syndrome 3 POLR1C
Trifunctional protein deficiency HADHB
Tyrosinemia, type I FAH
Tyrosinemia, type II TAT
Usher syndrome, type 1B; Deafness, autosomal dominant 11MYO7A
Usher syndrome, type 1G USH1G
Usher syndrome, type 2D / Deafness, autosomal recessive 31 WHRN
Usher syndrome, type 3A CLRN1
Ventricular tachycardia, catecholaminergic polymorphic, 2 CASQ2
Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness, 615441 TRDN
VLCAD deficiency ACADVL
Walker-Warburg syndrome (congenital with brain and eye anomalies) FKTN
Wilson disease ATP7B
Wolman disease (lysosomal acid lipase deficiency) LIPA
X-linked mental retardation (XLMR) associated with macrocephaly BRWD3
X-linked mixed deafness with perilymphatic gusher POU3F4

Los precios del servicio de Matching genético son los siguientes:

En los siguientes supuestos – 150 €

  • Donantes CEIFER Biobanco (semen)    +  Receptora
  • Donantes CEIFER Biobanco (ovocitos) +  Pareja de la receptora
  • Donantes CEIFER Biobanco (semen)    +  Donantes no CEIFER Biobanco (ovocitos)
  • Donantes CEIFER Biobanco (ovocitos) +  Donantes no CEIFER Biobanco (semen)

En el siguiente supuesto – 0 €

  • Donantes CEIFER Biobanco (semen)    +   Donantes CEIFER Biobanco (ovocitos)

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