Анализ PGD X-linked™ основывается на выявлении того, какие половые хромосомы (нормальные или аномальные) унаследованы эмбрионом. В некоторых ситуациях достаточно определение хромосомного пола эмбриона, чтобы выяснить, включает ли он измененную хромосому. .
Анализ может выполняться на материале, полученном путем биопсии на 5/6 (трофэктодерма) сутки выращивания эмбриона. Из-за риска ошибочной диагностики, вызванной загрязнением сперматозоидов в случае стандартного оплодотворения ЭКО, рекомендуется применять процедуру ICSI. Каждая диагностика PGD рассматривается индивидуально, ей предшествует анализ материала, полученного от будущих родителей. В рамках процедуры необходим трансфер замороженных эмбрионов (FET).
Gene(s) | Condition | ||
---|---|---|---|
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 |
Пары, обремененные моногенным заболеванием, сцепленным с полом (когда партнеры являются носителями мутаций в генах на хромосомах X или Y). Анализ позволяет снизить риск моногенного заболевания у пары с генетической отягощенностью. Проверяется материал эмбрионов как женского, так и мужского пола. Этот анализ является альтернативой для АНАЛИЗА, ОСНОВАННОГО НА ДИФФЕРЕНЦИАЦИИ ПОЛАс целью избежать Х-сцепленного заболевания (в большинстве случаев эмбрионы женского пола будут только носителями, заболевание не разовьется). Благодаря этому анализу при оптимизации расходов пара получает шанс также родить потомство мужского пола.
В анализе PGD X-Linked™ определяется наличие и количество половых хромосом. Анализ позволяет выявить правильный хромосомный пол: женский (XX) или мужской (XY), а также обнаружить наличие синдромов заболеваний: синдромов Тернера (X0), Клайнфельтера (XXY), Джекобса (XYY), трисомии X (XXX) и тетрасомии (XXXX). Анализ не определяет генетический статус аутосомных хромосом. Анализ не выявляет сегментных анеуплоидий, герминального мозаицизма, касающегося анеуплоидий, структурных хромосомных нарушений (например, делеции фрагментов хромосомы, инверсии, дупликации). В рамках анализа не выполняется целенаправленная непосредственная диагностика аномального гена. Этот анализ позволяет лишь косвенно проверить наследование эмбрионом аномального гена/заболевания, сцепленного с половой хромосомой. Анализ позволяет дифференцировать, какая из материнских X-хромосом унаследована. С этой целью будет исследовано не менее 8 молекулярных маркеров. Анализ применяется также в случае заболеваний, обусловленных мутацией в Y-хромосоме.