Polski
PGD X-Linked™
PGD chorób sprzężonych z chromosomem X lub Y
Co to jest PGD X-linked™?
Badanie PGD X-linked™ polega na oznaczeniu, który z chromosomów płciowych (prawidłowy lub nieprawidłowy), został odziedziczony przez zarodek. W niektórych sytuacjach wystarczy określenie płci chromosomalnej zarodka, aby stwierdzić, czy zawiera on chromosom obciążony zmianą. .
Badanie może być wykonane z materiału pobranego w drodze biopsji w 5/6 (komórki trofoektodermy) dobie hodowli zarodka. Ze względu na ryzyko błędnego rozpoznania spowodowanego zanieczyszczeniem plemników w przypadku użycia standardowego zapłodnienia in vitro, rekomenduje się zastosowanie procedury ICSI. Każda diagnostyka PGD traktowana jest indywidualnie i poprzedzona badaniem materiału od przyszłych rodziców. W ramach procedury wymagany jest transfer mrożonych zarodków (FET).
Dlaczego warto wykonać PGD X-Linked™?
- Umożliwia pośrednie określenie statusu genetycznego zarodka poprzez oznaczenie, który z chromosomów płciowych (prawidłowy lub nieprawidłowy) został odziedziczony przez zarodek.
- Optymalizuje koszty diagnostyki i leczenia – alternatywa dla diagnostyki PGD ONE™ w kierunku chorób jednogenowych
- Umożliwia połączenie z badaniem PGS-NGS 360˚™ – w atrakcyjnej cenie
- Umożliwia zbadanie wszystkich zarodków (męskich i żeńskich) – alternatywa dla badania opartego na zróżnicowaniu płci. Podane mogą być wszystkie zarodki zdrowe (nie posiadające nieprawidłowego chromosomu), tym samym większa jest szansa na uzyskanie ciąży (wyższa skuteczność pojedynczego cyklu)
Pierwsze na świecie wykorzystanie
NGS (Next Generation Sequencing)
w diagnostyce preimplantacyjnej PGD w kierunku chorób sprzężonych z chromosomem X.
Laboratorium Genetyczne INVICTA: maj 2015 r.
Choroby sprzężone z płcią
Dla części chorób uwarunkowanych genetycznie stwierdzono dziedziczenie sprzężone z chromosomem płciowym. Potocznie nazywane są one chorobami sprzężonymi z płcią. Na chromosomie X zidentyfikowanych zostało ok. 800 różnych genów. Natomiast chromosom Y zawiera jedynie 45 genów, które przede wszystkim związane są z determinacją płci męskiej oraz spermatogenezą. Z tego powodu choroby sprzężone z płcią w głównej mierze determinowane są przez obecność nieprawidłowych wariantów genów znajdujących się na chromosomie X. Przyjęło się więc choroby związane z płcią określać mianem chorób sprzężonych z chromosomem X (ang. X-linked disease).
Przypadek nr 1 Dziedziczenie dominujące sprzężone z chromosomem X (chora matka)
Przypadek nr 2 Dziedziczenie recesywne sprzężone z chromosomem X (matka jest nosicielem choroby)
Przypadek nr 3 Dziedziczenie dominujące sprzężone z chromosomem X (chory ojciec)
Przypadek nr 4 Dziedziczenie recesywne sprzężone z chromosomem X (chory ojciec)
Przypadek nr 5 Choroby sprzężone z chromosomem Y (chory ojciec)
Jakie choroby możemy zdiagnozować?
Jesteśmy w stanie wykonać diagnostykę PGD X-Linked™dla wszystkich znanych chorób sprzężonych z chromosomem X lub Y na podstawie bazy danych ClinVar 1).
1) http://www.ncbi.nlm.nih.gov/clinvar/ [11.04.2016]
Oferta badań
| Gen | Nazwa choroby |
|---|---|
| HSD17B10 | 2-methyl-3-hydroxybutyric aciduria |
| TAZ | 3-Methylglutaconic aciduria type 2 |
| FGD1 | Aarskog syndrome |
| DCX | Abnormal cortical gyration |
| NAP1L3 | Abnormality of neuronal migration |
| TBX22 | Abruzzo Erickson syndrome |
| ATRX | Acquired hemoglobin H disease |
| GATA1 | Acute megakaryoblastic leukemia |
| ABCD1 | Adrenoleukodystrophy |
| ATP2B3 | Aldosterone Producing Adrenal Cortex Adenoma |
| SLC16A2 | Allan-Herndon-Dudley syndrome |
| COL4A5 | Alport syndrome, X-linked recessive |
| AMELX|ARHGAP6 | Amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 2 |
| AMELX|ARHGAP6 | Amelogenesis imperfecta, type 1E |
| UBQLN2 | Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia |
| AR | Androgen insensitivity, complete |
| AR | Androgen insensitivity, partial, with breast cancer |
| AR | Androgen resistance syndrome |
| ABCB7 | Anemia sideroblastic and spinocerebellar ataxia |
| G6PD | Anemia, nonspherocytic hemolytic, due to G6PD deficiency |
| MECP2 | Angelman syndrome |
| XPNPEP2 | Angioedema induced by ACE inhibitors, susceptibility to |
| IKBKG | Anhidrotic ectodermal dysplasia with immune deficiency |
| ARR3 | Anophthalmia - microphthalmia |
| MAOA | Antisocial behavior following childhood maltreatment, susceptibility to |
| COX7B | Aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism, and other congenital anomalies |
| DMD | Arrhythmogenic right ventricular cardiomyopathy |
| UBA1 | Arthrogryposis multiplex congenita, distal, X-linked |
| PRPS1 | Arts syndrome |
| NDP | Atrophia bulborum hereditaria |
| ATRX | ATR-X syndrome |
| CYBB | Atypical mycobacteriosis, familial, X-linked 2 |
| CDKL5 | Atypical Rett syndrome |
| CDKL5 | Autism |
| NLGN3 | Autism, susceptibility to, X-linked 1 |
| MECP2 | Autism, susceptibility to, X-linked 3 |
| RPL10 | Autism, susceptibility to, X-linked 5 |
| DMD | Becker muscular dystrophy |
| PLS3 | Bone mineral density quantitative trait locus 18 |
| PHF6 | Borjeson-Forssman-Lehmann syndrome |
| AR | Bulbo-spinal atrophy X-linked |
| FLNA | Cardiac valvular dysplasia, X-linked |
| EMD | Cardiomyopathy |
| AMOT | Cerebral visual impairment and intellectual disability |
| GJB1 | Charcot-Marie-Tooth disease |
| PDK3 | Charcot-Marie-Tooth disease, X-linked dominant, 6 |
| AIFM1 | Charcot-Marie-Tooth disease, X-linked recessive, type 4 |
| PRPS1 | Charcot-Marie-Tooth disease, X-linked recessive, type 5 |
| GJB1 | Charcot-Marie-Tooth Neuropathy X |
| NSDHL | Child syndrome |
| PLXNA3 | Childhood-Onset Schizophrenia |
| ARSE | Chondrodysplasia punctata 1, X-linked recessive |
| EBP | Chondrodysplasia punctata 2 X-linked dominant |
| HDAC6 | Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia |
| CHM | Choroideremia |
| SLC9A6 | Christianson syndrome |
| CD40LG|ARHGEF6|RBMX|VGLL1|GPR101 | Chromosome Xq26.3 duplication syndrome |
| BCAP31 | Chromosome Xq28 deletion syndrome |
| G6PD | Chronic granuloma and hemolytic anemia |
| CYBB | Chronic granulomatous disease, X-linked |
| TBX22 | Cleft palate with ankyloglossia |
| RPS6KA3 | Coffin-Lowry syndrome |
| OPN1MW | Colorblindness, partial, deutan series |
| IL2RG | Combined immunodeficiency, X-linked |
| AIFM1 | Combined oxidative phosphorylation deficiency 6 |
| OPN1MW | Cone dystrophy 5, X-linked |
| OPN1LW | Cone monochromatism |
| CACNA1F | Cone-rod dystrophy X-linked 3 |
| RPGR | Cone-rod dystrophy, X-linked 1 |
| NR0B1 | Congenital adrenal hypoplasia, X-linked |
| BCOR | Congenital cataract |
| ALG13 | Congenital disorder of glycosylation type 1s |
| SSR4 | Congenital disorder of glycosylation type 1y |
| SLC35A2 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm |
| ZIC3 | Congenital heart defects, multiple types, 1, X-linked |
| SMC1A | Congenital muscular hypertrophy-cerebral syndrome |
| FLNA | Congenital short bowel syndrome, X-linked |
| NYX | Congenital stationary night blindness, type 1A |
| CACNA1F | Congenital stationary night blindness, type 2A |
| CACNA1F | Congenital stationary night blindness, type 2A, severe |
| HDAC8 | Cornelia de Lange syndrome 5 |
| L1CAM | Corpus callosum, partial agenesis of, X-linked |
| EFNB1 | Craniofrontonasal dysplasia |
| SLC6A8 | Creatine deficiency, X-linked |
| LAMP2 | Danon disease |
| PRPS1 | Deafness, high-frequency sensorineural, X-linked |
| POU3F4 | Deafness, X-linked 2 |
| SMPX | Deafness, X-linked 4 |
| AIFM1 | Deafness, X-linked 5 |
| F9 | Deep venous thrombosis, protection against |
| GK | Deficiency of glycerol kinase |
| CLCN5 | Dent disease 1 |
| OCRL | Dent disease 2 |
| TSR2 | Diamond-Blackfan anemia with microtia and cleft palate |
| DMD | Dilated cardiomyopathy 3B |
| ATP7A | Distal spinal muscular atrophy, X-linked 3 |
| DMD | Duchenne muscular dystrophy |
| DMD | Duchenne muscular dystrophy, mental retardation, and absence of erg b-wave |
| DKC1 | Dyskeratosis congenita X-linked |
| TAF1 | Dystonia 3, torsion, X-linked |
| CDKL5 | Early infantile epileptic encephalopathy 2 |
| ARHGEF9 | Early infantile epileptic encephalopathy 8 |
| PCDH19 | Early infantile epileptic encephalopathy 9 |
| WDR45|PRAF2|CCDC120 | Early onset epileptic encephalopathy |
| IKBKG | Ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema |
| EMD | Emery-Dreifuss muscular dystrophy 1, X-linked |
| FHL1 | Emery-Dreifuss muscular dystrophy 6 |
| EMD | Emery-Dreifuss muscular dystrophy, X-linked |
| MECP2 | Encephalopathy, neonatal severe, due to mecp2 mutation |
| MECP2 | Encephalopathy, neonatal severeMental retardation, X-linked, syndromic 13Rett syndrome |
| SYN1 | Epilepsy, X-linked, with variable learning disabilities and behavior disorders |
| ARX | epileptic encephalopathy, early infanitle, 1 |
| SPRY3|TMLHE | Epsilon-trimethyllysine hydroxylase deficiency |
| NDP | Exudative retinopathy |
| NDP | EXUDATIVE VITREORETINOPATHY, X-LINKED |
| GLA|RPL36A-HNRNPH2 | Fabry disease |
| GLA|RPL36A-HNRNPH2 | Fabry disease, cardiac variant |
| F9 | FACTOR IX POLYMORPHISM |
| F9 | FACTOR IX, DNA POLYMORPHISM |
| F8 | FACTOR VIII (OKAYAMA) |
| OFD1 | Familial aplasia of the vermis |
| IKBKG | Familial atypical mycobacteriosis, type 1, X-linked |
| NDP | Familial exudative vitreoretinopathy, X-linked |
| PHEX | Familial X-linked hypophosphatemic vitamin D refractory rickets |
| FANCB | Fanconi anemia |
| G6PD | Favism, susceptibility to |
| MED12 | FG syndrome |
| FLNA | FG syndrome 2 |
| CASK | FG syndrome 4 |
| PORCN | Focal dermal hypoplasia |
| ALG13 | Focal segmental glomerulosclerosis |
| FMR1 | Fragile X syndrome |
| AFF2 | FRAXE |
| FLNA | Frontometaphyseal dysplasia |
| G6PD | G6PD A+ |
| G6PD | G6PD ANDALUS |
| G6PD | G6PD AURES |
| G6PD | G6PD BEVERLY HILLS |
| G6PD | G6PD CANTON |
| G6PD | G6PD CHATHAM |
| G6PD | G6PD COIMBRA |
| G6PD | G6PD COSENZA |
| G6PD|IKBKG | G6PD GAOHE |
| G6PD | G6PD GASTONIA |
| G6PD | G6PD HARILAOU |
| G6PD | G6PD IERAPETRA |
| G6PD | G6PD ILESHA |
| G6PD | G6PD IOWA |
| G6PD | G6PD KAIPING |
| G6PD | G6PD KERALA-KALYAN |
| G6PD | G6PD LOMA LINDA |
| G6PD | G6PD MAHIDOL |
| G6PD | G6PD MAHIDOL-LIKE |
| G6PD | G6PD MEDITERRANEAN |
| G6PD | G6PD METAPONTO |
| G6PD | G6PD MEXICO CITY |
| G6PD | G6PD NAMORU |
| G6PD | G6PD NANKANG |
| G6PD | G6PD NARA |
| G6PD | G6PD NEAPOLIS |
| G6PD | G6PD NILGIRI |
| G6PD | G6PD ORISSA |
| G6PD | G6PD PORTICI |
| G6PD | G6PD PUERTO LIMON |
| G6PD | G6PD QUING YUAN |
| G6PD | G6PD RIVERSIDE |
| G6PD | G6PD SANTAMARIA |
| G6PD | G6PD SANTIAGO |
| G6PD | G6PD SANTIAGO DE CUBA |
| G6PD | G6PD SEATTLE-LIKE |
| G6PD | G6PD SERRES |
| G6PD | G6PD SPLIT |
| G6PD | G6PD TOMAH |
| G6PD | G6PD VIANGCHAN |
| GATA1 | GATA-1-related thrombocytopenia with dyserythropoiesis |
| G6PD | Glucose 6 phosphate dehydrogenase deficiency |
| PHKA2 | Glycogen storage disease IXa2 |
| PHKA1 | Glycogen storage disease IXd |
| PHKA2 | Glycogen storage disease type IXa1 |
| CYBB | Granulomatous disease, chronic, X-linked, variant |
| F9 | HEMOPHILIA B(M) |
| BRCC3 | Hereditary cancer-predisposing syndrome |
| F9 | Hereditary factor IX deficiency disease |
| F8 | Hereditary factor VIII deficiency disease |
| ALAS2 | Hereditary sideroblastic anemia |
| ZIC3 | Heterotaxy, visceral, X-linked |
| DCX | Heterotopia |
| FLNA | HETEROTOPIA, PERIVENTRICULAR NODULAR, X-LINKED DOMINANT, WITH MELNICK-NEEDLES SYNDROME |
| ARX | Hydranencephaly with abnormal genitalia |
| L1CAM | Hydrocephalus due to aqueductal stenosis |
| L1CAM | HYDROCEPHALUS, X-LINKED, WITH HIRSCHSPRUNG DISEASE |
| BTK | HYPOAGAMMAGLOBULINEMIA, X-LINKED |
| ANOS1 | Hypogonadotrophic hypogonadism |
| IKBKG | Hypohidrotic ectodermal dysplasia with immune deficiency |
| EDA | Hypohidrotic X-linked ectodermal dysplasia |
| AR | Hypospadias 1, X-linked |
| MAMLD1 | Hypospadias 2, X-linked |
| IGSF1 | Hypothyroidism, central, and testicular enlargement |
| MBTPS2 | IFAP syndrome with or without BRESHECK syndrome |
| CD40LG | Immunodeficiency with hyper IgM type 1 |
| MAGT1 | Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia |
| IKBKG | Incontinentia pigmenti syndrome |
| FRMD7 | Infantile nystagmus, X-linked |
| FOXP3 | Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
| BCORL1 | Intellectual functioning disability |
| DMD | Intermediate muscular dystrophy |
| FLNA | Intestinal pseudoobstruction neuronal chronic idiopathic X-linked |
| IKBKG | Invasive pneumococcal disease, recurrent isolated, 2 |
| TIMM8A | Jensen syndrome |
| OFD1 | Joubert syndrome 10 |
| RS1|CDKL5 | Juvenile retinoschisis |
| KDM6A | Kabuki syndrome 2 |
| ANOS1 | Kallmann syndrome 1 |
| MBTPS2 | Keratosis pilaris decalvans |
| DMD | Left ventricular noncompaction cardiomyopathy |
| NAA10 | Lenz microphthalmia syndrome |
| SHOX | Leri Weill dyschondrosteosis |
| HPRT1 | Lesch-Nyhan syndrome |
| HPRT1 | Lesch-nyhan syndrome, neurologic variant |
| GATA1 | Leukemia, megakaryoblastic, of Down syndrome |
| NDUFB11 | Linear skin defects with multiple congenital anomalies 3 |
| ARX | Lissencephaly 2, X-linked |
| DCX | Lissencephaly, X-linked |
| OCRL | Lowe syndrome |
| SH2D1A | Lymphoproliferative syndrome 1, X-linked |
| XIAP | Lymphoproliferative syndrome 2, X-linked |
| CHIC1 | Malignant tumor of prostate |
| RAB40AL | Martin-Probst deafness-mental retardation syndrome |
| XK | McLeod neuroacanthocytosis syndrome |
| CHRDL1 | Megalocornea |
| FLNA | Melnick-Needles syndrome |
| EBP | MEND syndrome |
| ATP7A | Menkes kinky-hair syndrome |
| IQSEC2 | Mental retardation 18, X-linked |
| IL1RAPL1 | Mental retardation 21, X-linked |
| HCFC1 | Mental retardation 3, X-linked |
| PAK3 | Mental retardation 30, X-linked |
| TSPAN7 | Mental retardation 58, X-linked |
| ACSL4 | Mental retardation 63, X-linked |
| CASK | Mental retardation and microcephaly with pontine and cerebellar hypoplasia |
| AP1S2 | Mental retardation X-linked syndromic 5 |
| OPHN1 | Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance |
| UPF3B | Mental retardation, syndromic 14, X-linked |
| KDM5C | Mental retardation, syndromic, Claes-Jensen type, X-linked |
| ARX | Mental retardation, with or without seizures, ARX-related, X-linked |
| KIF4A | Mental retardation, X-linked 100 |
| MID2 | Mental retardation, X-linked 101 |
| DDX3X | Mental retardation, X-linked 102 |
| THOC2 | Mental retardation, X-linked 12 |
| RPS6KA3 | Mental retardation, X-linked 19 |
| ZNF81 | Mental retardation, X-linked 45 |
| RAB39B | Mental retardation, X-linked 72 |
| BRWD3 | Mental retardation, X-linked 93 |
| SYP | Mental retardation, X-linked 96 |
| KIAA2022 | Mental retardation, X-linked 98 |
| USP9X | Mental retardation, X-linked 99 |
| USP9X | MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED |
| IQSEC2 | Mental retardation, X-linked, nonspecific |
| HSD17B10 | Mental retardation, X-linked, syndromic 10 |
| MECP2 | Mental retardation, X-linked, syndromic 13 |
| CLIC2 | Mental retardation, X-linked, syndromic 32 |
| TAF1 | Mental retardation, X-linked, syndromic 33 |
| NONO | MENTAL RETARDATION, X-LINKED, SYNDROMIC 34 |
| ATP6AP2 | Mental retardation, X-linked, syndromic, Hedera type |
| ZDHHC9 | Mental retardation, X-linked, syndromic, raymond type |
| HUWE1 | Mental retardation, X-linked, syndromic, turner type |
| GRIA3 | Mental retardation, X-linked, syndromic, wu type |
| ATRX | Mental retardation-hypotonic facies syndrome X-linked, 1 |
| ATRX | MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED |
| FGF16 | Metacarpal 4-5 fusion |
| HCCS | Microphthalmia, syndromic, 7 |
| NR0B1 | Mineralocorticoid deficiency, isolated |
| NDUFA1 | Mitochondrial complex I deficiency |
| TIMM8A | Mohr-Tranebjaerg syndrome |
| MAOA | Monoamine oxidase A deficiency |
| IDS | Mucopolysaccharidosis, MPS-II |
| IDS | MUCOPOLYSACCHARIDOSIS, TYPE II, SEVERE FORM |
| PIGA | Multiple congenital anomalies-hypotonia-seizures syndrome 2 |
| DMD | Muscular dystrophy |
| FHL1 | Myopathy with postural muscle atrophy, X-linked |
| FHL1 | Myopathy, reducing body, X-linked, childhood-onset |
| FHL1 | Myopathy, reducing body, X-linked, early-onset, severe |
| NHS | Nance-Horan syndrome |
| AVPR2 | Nephrogenic diabetes insipidus |
| AVPR2 | Nephrogenic diabetes insipidus, X-linked |
| AVPR2 | Nephrogenic syndrome of inappropriate antidiuresis |
| CLCN5 | NEPHROLITHIASIS, X-LINKED RECESSIVE |
| WDR45 | Neurodegeneration with brain iron accululation 5 |
| WDR45 | Neurodegeneration with brain iron accumulation 5 |
| RLIM | Non-syndromic X-linked intellectual disability |
| NSDHL | NSDHL-Related Disorders |
| NAA10 | N-terminal acetyltransferase deficiency |
| GPR143 | Nystagmus 6, congenital, X-linked |
| GPR143 | Ocular albinism, type I |
| BCOR | Oculofaciocardiodental syndrome |
| MED12 | Ohdo syndrome, X-linked |
| MID1 | Opitz-Frias syndrome |
| OFD1 | Oral-facial-digital syndrome |
| OTC | Ornithine carbamoyltransferase deficiency |
| OTC | ORNITHINE TRANSCARBAMYLASE POLYMORPHISM |
| AMER1 | Osteopathia striata with cranial sclerosis |
| FLNA | Otopalatodigital spectrum disorder |
| FLNA | Oto-palato-digital syndrome, type I |
| FLNA | Oto-palato-digital syndrome, type II |
| BMP15 | Ovarian dysgenesis 2 |
| MBTPS2 | Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked |
| GLUD2 | Parkinson disease, late-onset |
| ATP6AP2 | Parkinsonism with spasticity, X-linked |
| CLIC2|RAB39B | Parkinsonism, early onset with mental retardation |
| PIGA | Paroxysmal nocturnal hemoglobinuria 1 |
| HPRT1 | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency |
| PLP1 | Pelizaeus-Merzbacher disease |
| PLP1 | Pelizaeus-merzbacher disease, atypical |
| PLP1 | Pelizaeus-merzbacher disease, connatal |
| PLP1 | Pelizaeus-merzbacher disease, mild |
| PGK1 | Phosphoglycerate kinase 1 deficiency |
| PGK1 | Phosphoglycerate kinase electrophoretic variant PGK II |
| PRPS1 | Phosphoribosylpyrophosphate synthetase superactivity |
| POLA1 | Pigmentary disorder, reticulate, with systemic manifestations |
| GPR101 | Pituitary adenoma, growth hormone-secreting, 2 |
| C1GALT1C1 | Polyagglutinable erythrocyte syndrome |
| POF1B | Premature ovarian failure 2b |
| BMP15 | Premature ovarian failure 4 |
| DMD | Primary dilated cardiomyopathy |
| LAMP2 | Primary familial hypertrophic cardiomyopathy |
| CFP | PROPERDIN DEFICIENCY, TYPE II |
| CFP | PROPERDIN DEFICIENCY, TYPE III |
| CFP | Properdin deficiency, X-linked |
| AR | Prostate cancer susceptibility |
| OPN1LW | Protan defect |
| CLCN5 | Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis |
| ALAS2 | Protoporphyria, erythropoietic, X-linked |
| ARX | Proud Levine Carpenter syndrome |
| PDHA1 | Pyruvate dehydrogenase E1-alpha deficiency |
| OPN1LW | RED CONE POLYMORPHISM |
| AR | Reifenstein syndrome |
| PQBP1 | Renpenning syndrome 1 |
| RPGR | Retinal dystrophy |
| RPGR | Retinitis pigmentosa |
| RPGR | Retinitis pigmentosa 15 |
| RP2 | Retinitis pigmentosa 2 |
| OFD1 | Retinitis Pigmentosa 23 |
| RPGR | RETINITIS PIGMENTOSA, X-LINKED, AND SINORESPIRATORY INFECTIONS, WITH DEAFNESS |
| MECP2 | Rett syndrome |
| CCDC22 | Ritscher-schinzel syndrome 2 |
| SRPX2 | Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked |
| FHL1 | Scapuloperoneal myopathy, X-linked dominant |
| MECP2 | Schizophrenia |
| HTR2C | SEROTONIN 5-HT-2C RECEPTOR POLYMORPHISM |
| WAS | Severe congenital neutropenia X-linked |
| MECP2 | Severe neonatal-onset encephalopathy with microcephaly |
| MTM1 | Severe X-linked myotubular myopathy |
| SHOX | Short stature, idiopathic, X-linked |
| PHF8 | Siderius X-linked mental retardation syndrome |
| GPC3 | Simpson-Golabi-Behmel syndrome |
| SMS | Snyder Robinson syndrome |
| L1CAM | Spastic paraplegia |
| L1CAM | Spastic paraplegia 1 |
| PLP1 | Spastic paraplegia 2 |
| TEX11 | Spermatogenic failure, X-linked, 2 |
| RGAG1 | Spinocerebellar ataxia, X-linked |
| ATP2B3 | Spinocerebellar ataxia, X-linked 1 |
| TRAPPC2 | Spondyloepiphyseal dysplasia tarda |
| SHROOM4 | Stocco dos Santos syndrome |
| DCX | Subcortical laminar heterotopia, X-linked |
| CSF2RA | Surfactant metabolism dysfunction, pulmonary, 4 |
| UBE2A | Syndromic mental retardation, Nascimento type, X-linked |
| FGD1 | Syndromic X-linked mental retardation 16 |
| CUL4B | Syndromic X-linked mental retardation, Cabezas type |
| RBM10 | TARP syndrome |
| FLNA | Terminal osseous dysplasia |
| GATA1 | Thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis |
| WAS | Thrombocytopenia, X-linked |
| WAS | Thrombocytopenia, X-linked, intermittent |
| SERPINA7 | Thyroxine-binding globulin deficiency, complete |
| SERPINA7 | Thyroxine-binding globulin deficiency, partial |
| SERPINA7 | Thyroxine-binding globulin deficiency, partial, Japanese type |
| SERPINA7 | Thyroxine-binding globulin, Chicago |
| SERPINA7 | Thyroxine-binding globulin, slow |
| SERPINA7 | Thyroxine-binding globulin, variant A |
| SERPINA7 | Thyroxine-binding globulin, variant P |
| EDA | Tooth agenesis, selective, X-linked, 1 |
| RNF113A | Trichothiodystrophy 5, nonphotosensitive |
| LAMP2 | Trifascicular block on electrocardiogram |
| MED12 | Uterine leiomyoma |
| ZIC3 | VACTERL association with hydrocephaly, X-linked |
| ZC4H2 | Wieacker syndrome |
| SMC1A | Wiedemann-Steiner syndrome |
| GPC3 | Wilms tumor 1 |
| HDAC8 | Wilson-Turner X-linked mental retardation syndrome |
| WAS | Wiskott-Aldrich syndrome |
| WAS | Wiskott-Aldrich syndrome, attenuated |
| BTK | X-linked agammaglobulinemia |
| BTK | X-linked agammaglobulinemia with growth hormone deficiency |
| RAB39B | X-linked dominant Parkinson's disease |
| GJB1 | X-linked hereditary motor and sensory neuropathy |
| L1CAM | X-linked hydrocephalus syndrome |
| STS | X-linked ichthyosis with steryl-sulfatase deficiency |
| GDI1 | X-Linked Mental Retardation 41 |
| DLG3 | X-Linked mental retardation 90 |
| MED12 | X-linked mental retardation with marfanoid habitus syndrome |
| FLNA | X-linked periventricular heterotopia |
| IL2RG | X-linked severe combined immunodeficiency |
| ZNF711 | ZNF711-Related X-linked Mental Retardation |
Wskazania do wykonania PGD X-Linked™
Pary obciążone chorobą jednogenową sprzężoną z płcią (gdy partnerzy są nosicielami mutacji w genach na chromosomach X lub Y). Badanie umożliwia ograniczenie ryzyka wystąpienia choroby jednogenowej u potomstwa obciążonej genetycznie pary. Weryfikowany jest materiał zarówno zarodków płci żeńskiej, jak i męskiej. Jest to alternatywa dla badania opartego na różnicowaniu płci w celu uniknięcia choroby związanej z chromosomem X (w większości przypadków zarodki płci żeńskiej będą tylko nosicielami, choroba się nie ujawni). Dzięki badaniu, przy zoptymalizowanych kosztach, para zyskuje szanse także na potomstwo płci męskiej.
Laboratorium Genetyczne INVICTA zapewnia:
- Specjalistyczny Zestaw Pobraniowy PGD BIOPSY KIT™
- Bezpłatny transport
- Dostęp do wyników online
Оgraniczenia
W badaniu PGD X-Linked™ oznacza się obecność i liczbę chromosomów płciowych. Badanie pozwala na oznaczenie prawidłowej płci chromosomowej: żeńskiej (XX) lub męskiej (XY) oraz oznaczenie wystąpienia zespołów chorobowych: Turnera (X0), Klinefeltera (XXY), Jacobsa (XYY), Trisomii X (XXX) oraz Tetrasomii X (XXXX). Badanie nie określa statusu genetycznego chromosomów autosomalnych. Badanie nie wykrywa segmentalnych aneuploidii, mozaicyzmu germinalnego dotyczącego aneuploidii, strukturalnych zaburzeń chromosomowych (np. delecji fragmentu chromosomu, inwersji, duplikacji). W ramach badania nie wykonuje się celowanej, bezpośredniej, diagnostyki nieprawidłowego genu. Badanie to umożliwia jedynie pośrednią weryfikację odziedziczenia przez zarodek nieprawidłowego genu/choroby związanej z chromosomem płciowym. Badanie umożliwia rozróżnienie, który z matczynych chromosomów X został odziedziczony. W tym celu analizie poddanych zostanie nie mniej niż 8 markerów molekularnych. Badanie znajduje zastosowanie również w przypadku chorób uwarunkowanych przez mutację znajdującą się na chromosomie Y.
Literatura
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