Genetic matching allows comparison of the genetic information from the donor with that of the recipient woman, in order to avoid the transmission of autosomal recessive genetic diseases.
Knowing this genetic information we select a suitable donor so that sperm donor and the receiving woman do not share mutations in the same genes.
This makes possible to avoid the transmission of autosomal recessive genetic diseases.
(Genetic matching protocol does not eliminate the risk in the offspring of being affected or being a carrier of recessive diseases, even if it is one of the diseases studied. Its objective is the significant reduction of risks, depending on the disease object of study).
Protocol
Our genetic test is designed to determine the carrier status of more than 300 genes related to monogenic recessive diseases. Among these 300 genes screened there are variants with a particularly high presence in the Mediterranean area.
Analysis of the genetics related to known disorders is performed using the most modern techniques of mass sequencing (Next Generation Sequencing – NGS).
SCREENED GENES
| Enfermedad | Gen |
|---|---|
| 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 Ia | BCKDHA |
| Maple syrup urine disease, type Ib | BCKDHB |
| McArdle disease / Glycogen Storage Disease: Type V | PYGM |
| 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 acidemia | PCCB |
| 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 11 | MYO7A |
| 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 |
Prices for the service are as follows:
If one of the following conditions is met – [table “6” could not be loaded /]
- Donors from CEIFER Biobanco (sperm) + Receiving woman
- Donors from CEIFER Biobanco (oocytes) + Couple of the receiving woman
- Donors from CEIFER Biobanco (sperm) + Donors NOT from CEIFER Biobanco (oocytes)
- Donors from CEIFER Biobanco (oocytes) + Donors NOT from CEIFER Biobanco (sperm)
In the following assumption – [table “6” could not be loaded /]
- Donors from CEIFER Biobanco (sperm) + Donors from CEIFER Biobanco (oocytes)