info@invictagenetics.com

+48 696 059 658

PGD X-Linked™
PGD NGS for X-linked diseases

What is PGD X-Linked™?

The PGD X-linked™ test consists of determination which sex chromosome (normal or abnormal) has been inherited by the embryo. In some cases, it is enough to determine the chromosomal sex of the embryo in order to establish whether it contains an altered chromosome. .

The test can be carried out on material collected by biopsy on the 5th/6th (trophectoderm cells) day of the embryo culture. Because of the risk of misdiagnosis caused by possible presence of any extra sperm near the egg when using standard in vitro fertilization, the ICSI procedure is recommended. In each case preformence of PGD X-Linked™ is treated individually and preceded by examination of the material from the prospective parents. Following the tests embryos are transferred in a frozen cycle.

_DSC6443_small
Why is it worth to perform PGD X-Linked™?

  • It allows to indirectly find embryo’s genetic status by determining which sex chromosome (normal or abnormal) has been inherited by the embryo.
  • It optimizes diagnostic and treatment costs – thus being the alternative for PGD ONE™ or PGD ONE FM™ for single-gene diseases.
  • It can be combined with PGS-NGS 360˚™ – at an attractive price
  • It allows all (female and male) embryos testing – the alternative for selection based on sex differentiation. Thus, all healthy embryos (without an abnormal chromosome) can be available for transfer, thereby increasing the chances of pregnancy (higher effectiveness of a single cycle).

The world’s first use of Next Generation Sequencing (NGS) in the preimplantation genetic diagnosis (PGD) for X-linked diseases.
INVICTA Genetic Laboratory: may 2015 r.
Sex-linked diseases

Inheritance of some genetic diseases is linked to a sex chromosome. These disorders are also called sex-linked diseases. Approximately 800 various genes were identified on the X chromosome. The Y chromosome contains only 45 genes, which are predominantly connected with the determination of male sex and with spermatogenesis. For this reason, sex-linked diseases are primarily determined by the presence of abnormal variations of genes located on the X chromosome. Tt has become customary to refer to sex-linked diseases as X-linked diseases.

Case 1 X-linked Dominant Inheritance (mother has the condition)

Case 2 X-linked Recessive Inheritance (mother is a carrier of the condition)

Case 3 X-linked Dominant Inheritance (father has the condition)

Case 4 X-linked recessive inheritance (father has the condition)

Case 5 Y-linked inheritance (father has the condition)

What we can diagnose?

We can perform PGD X-Linked™ for all known X-linked diseases based on the current ClinVar database1).

1) http://www.ncbi.nlm.nih.gov/clinvar/ [11.04.2016]

Table 1. Tests offered
Gene(s)Condition
HSD17B102-methyl-3-hydroxybutyric aciduria
TAZ3-Methylglutaconic aciduria type 2
FGD1Aarskog syndrome
DCXAbnormal cortical gyration
NAP1L3Abnormality of neuronal migration
TBX22Abruzzo Erickson syndrome
ATRXAcquired hemoglobin H disease
GATA1Acute megakaryoblastic leukemia
ABCD1Adrenoleukodystrophy
ATP2B3Aldosterone Producing Adrenal Cortex Adenoma
SLC16A2Allan-Herndon-Dudley syndrome
COL4A5Alport syndrome, X-linked recessive
AMELX|ARHGAP6Amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 2
AMELX|ARHGAP6Amelogenesis imperfecta, type 1E
UBQLN2Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia
ARAndrogen insensitivity, complete
ARAndrogen insensitivity, partial, with breast cancer
ARAndrogen resistance syndrome
ABCB7Anemia sideroblastic and spinocerebellar ataxia
G6PDAnemia, nonspherocytic hemolytic, due to G6PD deficiency
MECP2Angelman syndrome
XPNPEP2Angioedema induced by ACE inhibitors, susceptibility to
IKBKGAnhidrotic ectodermal dysplasia with immune deficiency
ARR3Anophthalmia - microphthalmia
MAOAAntisocial behavior following childhood maltreatment, susceptibility to
COX7BAplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism, and other congenital anomalies
DMDArrhythmogenic right ventricular cardiomyopathy
UBA1Arthrogryposis multiplex congenita, distal, X-linked
PRPS1Arts syndrome
NDPAtrophia bulborum hereditaria
ATRXATR-X syndrome
CYBBAtypical mycobacteriosis, familial, X-linked 2
CDKL5Atypical Rett syndrome
CDKL5Autism
NLGN3Autism, susceptibility to, X-linked 1
MECP2Autism, susceptibility to, X-linked 3
RPL10Autism, susceptibility to, X-linked 5
DMDBecker muscular dystrophy
PLS3Bone mineral density quantitative trait locus 18
PHF6Borjeson-Forssman-Lehmann syndrome
ARBulbo-spinal atrophy X-linked
FLNACardiac valvular dysplasia, X-linked
EMDCardiomyopathy
AMOTCerebral visual impairment and intellectual disability
GJB1Charcot-Marie-Tooth disease
PDK3Charcot-Marie-Tooth disease, X-linked dominant, 6
AIFM1Charcot-Marie-Tooth disease, X-linked recessive, type 4
PRPS1Charcot-Marie-Tooth disease, X-linked recessive, type 5
GJB1Charcot-Marie-Tooth Neuropathy X
NSDHLChild syndrome
PLXNA3Childhood-Onset Schizophrenia
ARSEChondrodysplasia punctata 1, X-linked recessive
EBPChondrodysplasia punctata 2 X-linked dominant
HDAC6Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia
CHMChoroideremia
SLC9A6Christianson syndrome
CD40LG|ARHGEF6|RBMX|VGLL1|GPR101Chromosome Xq26.3 duplication syndrome
BCAP31Chromosome Xq28 deletion syndrome
G6PDChronic granuloma and hemolytic anemia
CYBBChronic granulomatous disease, X-linked
TBX22Cleft palate with ankyloglossia
RPS6KA3Coffin-Lowry syndrome
OPN1MWColorblindness, partial, deutan series
IL2RGCombined immunodeficiency, X-linked
AIFM1Combined oxidative phosphorylation deficiency 6
OPN1MWCone dystrophy 5, X-linked
OPN1LWCone monochromatism
CACNA1FCone-rod dystrophy X-linked 3
RPGRCone-rod dystrophy, X-linked 1
NR0B1Congenital adrenal hypoplasia, X-linked
BCORCongenital cataract
ALG13Congenital disorder of glycosylation type 1s
SSR4Congenital disorder of glycosylation type 1y
SLC35A2CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm
ZIC3Congenital heart defects, multiple types, 1, X-linked
SMC1ACongenital muscular hypertrophy-cerebral syndrome
FLNACongenital short bowel syndrome, X-linked
NYXCongenital stationary night blindness, type 1A
CACNA1FCongenital stationary night blindness, type 2A
CACNA1FCongenital stationary night blindness, type 2A, severe
HDAC8Cornelia de Lange syndrome 5
L1CAMCorpus callosum, partial agenesis of, X-linked
EFNB1Craniofrontonasal dysplasia
SLC6A8Creatine deficiency, X-linked
LAMP2Danon disease
PRPS1Deafness, high-frequency sensorineural, X-linked
POU3F4Deafness, X-linked 2
SMPXDeafness, X-linked 4
AIFM1Deafness, X-linked 5
F9Deep venous thrombosis, protection against
GKDeficiency of glycerol kinase
CLCN5Dent disease 1
OCRLDent disease 2
TSR2Diamond-Blackfan anemia with microtia and cleft palate
DMDDilated cardiomyopathy 3B
ATP7ADistal spinal muscular atrophy, X-linked 3
DMDDuchenne muscular dystrophy
DMDDuchenne muscular dystrophy, mental retardation, and absence of erg b-wave
DKC1Dyskeratosis congenita X-linked
TAF1Dystonia 3, torsion, X-linked
CDKL5Early infantile epileptic encephalopathy 2
ARHGEF9Early infantile epileptic encephalopathy 8
PCDH19Early infantile epileptic encephalopathy 9
WDR45|PRAF2|CCDC120Early onset epileptic encephalopathy
IKBKGEctodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema
EMDEmery-Dreifuss muscular dystrophy 1, X-linked
FHL1Emery-Dreifuss muscular dystrophy 6
EMDEmery-Dreifuss muscular dystrophy, X-linked
MECP2Encephalopathy, neonatal severe, due to mecp2 mutation
MECP2Encephalopathy, neonatal severeMental retardation, X-linked, syndromic 13Rett syndrome
SYN1Epilepsy, X-linked, with variable learning disabilities and behavior disorders
ARXepileptic encephalopathy, early infanitle, 1
SPRY3|TMLHEEpsilon-trimethyllysine hydroxylase deficiency
NDPExudative retinopathy
NDPEXUDATIVE VITREORETINOPATHY, X-LINKED
GLA|RPL36A-HNRNPH2Fabry disease
GLA|RPL36A-HNRNPH2Fabry disease, cardiac variant
F9FACTOR IX POLYMORPHISM
F9FACTOR IX, DNA POLYMORPHISM
F8FACTOR VIII (OKAYAMA)
OFD1Familial aplasia of the vermis
IKBKGFamilial atypical mycobacteriosis, type 1, X-linked
NDPFamilial exudative vitreoretinopathy, X-linked
PHEXFamilial X-linked hypophosphatemic vitamin D refractory rickets
FANCBFanconi anemia
G6PDFavism, susceptibility to
MED12FG syndrome
FLNAFG syndrome 2
CASKFG syndrome 4
PORCNFocal dermal hypoplasia
ALG13Focal segmental glomerulosclerosis
FMR1Fragile X syndrome
AFF2FRAXE
FLNAFrontometaphyseal dysplasia
G6PDG6PD A+
G6PDG6PD ANDALUS
G6PDG6PD AURES
G6PDG6PD BEVERLY HILLS
G6PDG6PD CANTON
G6PDG6PD CHATHAM
G6PDG6PD COIMBRA
G6PDG6PD COSENZA
G6PD|IKBKGG6PD GAOHE
G6PDG6PD GASTONIA
G6PDG6PD HARILAOU
G6PDG6PD IERAPETRA
G6PDG6PD ILESHA
G6PDG6PD IOWA
G6PDG6PD KAIPING
G6PDG6PD KERALA-KALYAN
G6PDG6PD LOMA LINDA
G6PDG6PD MAHIDOL
G6PDG6PD MAHIDOL-LIKE
G6PDG6PD MEDITERRANEAN
G6PDG6PD METAPONTO
G6PDG6PD MEXICO CITY
G6PDG6PD NAMORU
G6PDG6PD NANKANG
G6PDG6PD NARA
G6PDG6PD NEAPOLIS
G6PDG6PD NILGIRI
G6PDG6PD ORISSA
G6PDG6PD PORTICI
G6PDG6PD PUERTO LIMON
G6PDG6PD QUING YUAN
G6PDG6PD RIVERSIDE
G6PDG6PD SANTAMARIA
G6PDG6PD SANTIAGO
G6PDG6PD SANTIAGO DE CUBA
G6PDG6PD SEATTLE-LIKE
G6PDG6PD SERRES
G6PDG6PD SPLIT
G6PDG6PD TOMAH
G6PDG6PD VIANGCHAN
GATA1GATA-1-related thrombocytopenia with dyserythropoiesis
G6PDGlucose 6 phosphate dehydrogenase deficiency
PHKA2Glycogen storage disease IXa2
PHKA1Glycogen storage disease IXd
PHKA2Glycogen storage disease type IXa1
CYBBGranulomatous disease, chronic, X-linked, variant
F9HEMOPHILIA B(M)
BRCC3Hereditary cancer-predisposing syndrome
F9Hereditary factor IX deficiency disease
F8Hereditary factor VIII deficiency disease
ALAS2Hereditary sideroblastic anemia
ZIC3Heterotaxy, visceral, X-linked
DCXHeterotopia
FLNAHETEROTOPIA, PERIVENTRICULAR NODULAR, X-LINKED DOMINANT, WITH MELNICK-NEEDLES SYNDROME
ARXHydranencephaly with abnormal genitalia
L1CAMHydrocephalus due to aqueductal stenosis
L1CAMHYDROCEPHALUS, X-LINKED, WITH HIRSCHSPRUNG DISEASE
BTKHYPOAGAMMAGLOBULINEMIA, X-LINKED
ANOS1Hypogonadotrophic hypogonadism
IKBKGHypohidrotic ectodermal dysplasia with immune deficiency
EDAHypohidrotic X-linked ectodermal dysplasia
ARHypospadias 1, X-linked
MAMLD1Hypospadias 2, X-linked
IGSF1Hypothyroidism, central, and testicular enlargement
MBTPS2IFAP syndrome with or without BRESHECK syndrome
CD40LGImmunodeficiency with hyper IgM type 1
MAGT1Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia
IKBKGIncontinentia pigmenti syndrome
FRMD7Infantile nystagmus, X-linked
FOXP3Insulin-dependent diabetes mellitus secretory diarrhea syndrome
BCORL1Intellectual functioning disability
DMDIntermediate muscular dystrophy
FLNAIntestinal pseudoobstruction neuronal chronic idiopathic X-linked
IKBKGInvasive pneumococcal disease, recurrent isolated, 2
TIMM8AJensen syndrome
OFD1Joubert syndrome 10
RS1|CDKL5Juvenile retinoschisis
KDM6AKabuki syndrome 2
ANOS1Kallmann syndrome 1
MBTPS2Keratosis pilaris decalvans
DMDLeft ventricular noncompaction cardiomyopathy
NAA10Lenz microphthalmia syndrome
SHOXLeri Weill dyschondrosteosis
HPRT1Lesch-Nyhan syndrome
HPRT1Lesch-nyhan syndrome, neurologic variant
GATA1Leukemia, megakaryoblastic, of Down syndrome
NDUFB11Linear skin defects with multiple congenital anomalies 3
ARXLissencephaly 2, X-linked
DCXLissencephaly, X-linked
OCRLLowe syndrome
SH2D1ALymphoproliferative syndrome 1, X-linked
XIAPLymphoproliferative syndrome 2, X-linked
CHIC1Malignant tumor of prostate
RAB40ALMartin-Probst deafness-mental retardation syndrome
XKMcLeod neuroacanthocytosis syndrome
CHRDL1Megalocornea
FLNAMelnick-Needles syndrome
EBPMEND syndrome
ATP7AMenkes kinky-hair syndrome
IQSEC2Mental retardation 18, X-linked
IL1RAPL1Mental retardation 21, X-linked
HCFC1Mental retardation 3, X-linked
PAK3Mental retardation 30, X-linked
TSPAN7Mental retardation 58, X-linked
ACSL4Mental retardation 63, X-linked
CASKMental retardation and microcephaly with pontine and cerebellar hypoplasia
AP1S2Mental retardation X-linked syndromic 5
OPHN1Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance
UPF3BMental retardation, syndromic 14, X-linked
KDM5CMental retardation, syndromic, Claes-Jensen type, X-linked
ARXMental retardation, with or without seizures, ARX-related, X-linked
KIF4AMental retardation, X-linked 100
MID2Mental retardation, X-linked 101
DDX3XMental retardation, X-linked 102
THOC2Mental retardation, X-linked 12
RPS6KA3Mental retardation, X-linked 19
ZNF81Mental retardation, X-linked 45
RAB39BMental retardation, X-linked 72
BRWD3Mental retardation, X-linked 93
SYPMental retardation, X-linked 96
KIAA2022Mental retardation, X-linked 98
USP9XMental retardation, X-linked 99
USP9XMENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED
IQSEC2Mental retardation, X-linked, nonspecific
HSD17B10Mental retardation, X-linked, syndromic 10
MECP2Mental retardation, X-linked, syndromic 13
CLIC2Mental retardation, X-linked, syndromic 32
TAF1Mental retardation, X-linked, syndromic 33
NONOMENTAL RETARDATION, X-LINKED, SYNDROMIC 34
ATP6AP2Mental retardation, X-linked, syndromic, Hedera type
ZDHHC9Mental retardation, X-linked, syndromic, raymond type
HUWE1Mental retardation, X-linked, syndromic, turner type
GRIA3Mental retardation, X-linked, syndromic, wu type
ATRXMental retardation-hypotonic facies syndrome X-linked, 1
ATRXMENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED
FGF16Metacarpal 4-5 fusion
HCCSMicrophthalmia, syndromic, 7
NR0B1Mineralocorticoid deficiency, isolated
NDUFA1Mitochondrial complex I deficiency
TIMM8AMohr-Tranebjaerg syndrome
MAOAMonoamine oxidase A deficiency
IDSMucopolysaccharidosis, MPS-II
IDSMUCOPOLYSACCHARIDOSIS, TYPE II, SEVERE FORM
PIGAMultiple congenital anomalies-hypotonia-seizures syndrome 2
DMDMuscular dystrophy
FHL1Myopathy with postural muscle atrophy, X-linked
FHL1Myopathy, reducing body, X-linked, childhood-onset
FHL1Myopathy, reducing body, X-linked, early-onset, severe
NHSNance-Horan syndrome
AVPR2Nephrogenic diabetes insipidus
AVPR2Nephrogenic diabetes insipidus, X-linked
AVPR2Nephrogenic syndrome of inappropriate antidiuresis
CLCN5NEPHROLITHIASIS, X-LINKED RECESSIVE
WDR45Neurodegeneration with brain iron accululation 5
WDR45Neurodegeneration with brain iron accumulation 5
RLIMNon-syndromic X-linked intellectual disability
NSDHLNSDHL-Related Disorders
NAA10N-terminal acetyltransferase deficiency
GPR143Nystagmus 6, congenital, X-linked
GPR143Ocular albinism, type I
BCOROculofaciocardiodental syndrome
MED12Ohdo syndrome, X-linked
MID1Opitz-Frias syndrome
OFD1Oral-facial-digital syndrome
OTCOrnithine carbamoyltransferase deficiency
OTCORNITHINE TRANSCARBAMYLASE POLYMORPHISM
AMER1Osteopathia striata with cranial sclerosis
FLNAOtopalatodigital spectrum disorder
FLNAOto-palato-digital syndrome, type I
FLNAOto-palato-digital syndrome, type II
BMP15Ovarian dysgenesis 2
MBTPS2Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked
GLUD2Parkinson disease, late-onset
ATP6AP2Parkinsonism with spasticity, X-linked
CLIC2|RAB39BParkinsonism, early onset with mental retardation
PIGAParoxysmal nocturnal hemoglobinuria 1
HPRT1Partial hypoxanthine-guanine phosphoribosyltransferase deficiency
PLP1Pelizaeus-Merzbacher disease
PLP1Pelizaeus-merzbacher disease, atypical
PLP1Pelizaeus-merzbacher disease, connatal
PLP1Pelizaeus-merzbacher disease, mild
PGK1Phosphoglycerate kinase 1 deficiency
PGK1Phosphoglycerate kinase electrophoretic variant PGK II
PRPS1Phosphoribosylpyrophosphate synthetase superactivity
POLA1Pigmentary disorder, reticulate, with systemic manifestations
GPR101Pituitary adenoma, growth hormone-secreting, 2
C1GALT1C1Polyagglutinable erythrocyte syndrome
POF1BPremature ovarian failure 2b
BMP15Premature ovarian failure 4
DMDPrimary dilated cardiomyopathy
LAMP2Primary familial hypertrophic cardiomyopathy
CFPPROPERDIN DEFICIENCY, TYPE II
CFPPROPERDIN DEFICIENCY, TYPE III
CFPProperdin deficiency, X-linked
ARProstate cancer susceptibility
OPN1LWProtan defect
CLCN5Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis
ALAS2Protoporphyria, erythropoietic, X-linked
ARXProud Levine Carpenter syndrome
PDHA1Pyruvate dehydrogenase E1-alpha deficiency
OPN1LWRED CONE POLYMORPHISM
ARReifenstein syndrome
PQBP1Renpenning syndrome 1
RPGRRetinal dystrophy
RPGRRetinitis pigmentosa
RPGRRetinitis pigmentosa 15
RP2Retinitis pigmentosa 2
OFD1Retinitis Pigmentosa 23
RPGRRETINITIS PIGMENTOSA, X-LINKED, AND SINORESPIRATORY INFECTIONS, WITH DEAFNESS
MECP2Rett syndrome
CCDC22Ritscher-schinzel syndrome 2
SRPX2Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked
FHL1Scapuloperoneal myopathy, X-linked dominant
MECP2Schizophrenia
HTR2CSEROTONIN 5-HT-2C RECEPTOR POLYMORPHISM
WASSevere congenital neutropenia X-linked
MECP2Severe neonatal-onset encephalopathy with microcephaly
MTM1Severe X-linked myotubular myopathy
SHOXShort stature, idiopathic, X-linked
PHF8Siderius X-linked mental retardation syndrome
GPC3Simpson-Golabi-Behmel syndrome
SMSSnyder Robinson syndrome
L1CAMSpastic paraplegia
L1CAMSpastic paraplegia 1
PLP1Spastic paraplegia 2
TEX11Spermatogenic failure, X-linked, 2
RGAG1Spinocerebellar ataxia, X-linked
ATP2B3Spinocerebellar ataxia, X-linked 1
TRAPPC2Spondyloepiphyseal dysplasia tarda
SHROOM4Stocco dos Santos syndrome
DCXSubcortical laminar heterotopia, X-linked
CSF2RASurfactant metabolism dysfunction, pulmonary, 4
UBE2ASyndromic mental retardation, Nascimento type, X-linked
FGD1Syndromic X-linked mental retardation 16
CUL4BSyndromic X-linked mental retardation, Cabezas type
RBM10TARP syndrome
FLNATerminal osseous dysplasia
GATA1Thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis
WASThrombocytopenia, X-linked
WASThrombocytopenia, X-linked, intermittent
SERPINA7Thyroxine-binding globulin deficiency, complete
SERPINA7Thyroxine-binding globulin deficiency, partial
SERPINA7Thyroxine-binding globulin deficiency, partial, Japanese type
SERPINA7Thyroxine-binding globulin, Chicago
SERPINA7Thyroxine-binding globulin, slow
SERPINA7Thyroxine-binding globulin, variant A
SERPINA7Thyroxine-binding globulin, variant P
EDATooth agenesis, selective, X-linked, 1
RNF113ATrichothiodystrophy 5, nonphotosensitive
LAMP2Trifascicular block on electrocardiogram
MED12Uterine leiomyoma
ZIC3VACTERL association with hydrocephaly, X-linked
ZC4H2Wieacker syndrome
SMC1AWiedemann-Steiner syndrome
GPC3Wilms tumor 1
HDAC8Wilson-Turner X-linked mental retardation syndrome
WASWiskott-Aldrich syndrome
WASWiskott-Aldrich syndrome, attenuated
BTKX-linked agammaglobulinemia
BTKX-linked agammaglobulinemia with growth hormone deficiency
RAB39BX-linked dominant Parkinson's disease
GJB1X-linked hereditary motor and sensory neuropathy
L1CAMX-linked hydrocephalus syndrome
STSX-linked ichthyosis with steryl-sulfatase deficiency
GDI1X-Linked Mental Retardation 41
DLG3X-Linked mental retardation 90
MED12X-linked mental retardation with marfanoid habitus syndrome
FLNAX-linked periventricular heterotopia
IL2RGX-linked severe combined immunodeficiency
ZNF711ZNF711-Related X-linked Mental Retardation
What are the indications for PGD X-Linked™

Couples carrying a sex-linked single-gene disease (where partners carry a mutation in genes located on either X or Y chromosome) The test allows reduction of single-gene disease risk in children of the couple carrying this disease. The genetic material of both female and male embryos is verified. This is the alternative for selection based on sex differentiation aimed at avoiding an X-linked disease (in most cases, female embryos will only be the carriers of the disease, and the disease will not manifest). Thanks to the test, its optimized costs, the couple will also get the chance of having a male child.

INVICTA Genetic Laboratory offers:
  • Free PGD BIOPSY KIT™
  • Free shipment
  • Online access to results

Cooperation procedure
Limitations

In PGD X-Linked™, the presence and number of sex chromosomes is determined. The test allows to determinate the proper chromosomal sex: female (XX) or male (XY), and the presence of the following syndromes: Turner (X0), Klinefelter (XXY), Jacobs (XYY), X Trisomy (XXX) and X Tetrasomy (XXXX). The test does not determine the genetic status of autosomal chromosomes. The test does not detect segmental aneuploidies, germinal mosaicism concerning aneuploidies, structural chromosome disorders (e.g. chromosome fragment deletions, inversions, duplications). The test does not include targeted, direct diagnosis of the abnormal gene. The test allows only for indirect verification of whether the embryo has inherited an abnormal gene/disease linked to a sex chromosome. The test allows to differentiate which of maternal X chromosomes has been inherited. To this aim, not less than 8 molecular markers will be subjected to the analysis. The test may also be used in the case of diseases caused by a mutation located on the X chromosome.

Literature

  • 1. Kim IW, Khadilkar AC, Ko EY, Sabanegh ES Jr.47,XYY Syndrome and Male Infertility. Rev Urol. 2013;15(4):188-96. Review.
  • 2. Hutaff-Lee C, Cordeiro L, Tartaglia N.Cognitive and medical features of chromosomal aneuploidy. HandbClinNeurol. 2013;111:273-9. Review.
  • 3. Li JN, Carrero IG, Dong JF, Yu FL. Complexity and diversity of F8 genetic variations in the 1000 genomes. J ThrombHaemost. 2015;13(11):2031-40.
  • 4. Thrasher BJ, Hong LK, Whitmire JK, Su MA.Epigenetic Dysfunction in Turner Syndrome Immune Cells. CurrAllergyAsthma Rep. 2016;16(5):36. Review.
  • 5. Salzano A, Arcopinto M, Marra AM, Bobbio E, Esposito D, Accardo G, Giallauria F, Bossone E, Vigorito C, Lenzi A, Pasquali D, Isidori AM, Cittadini A.Klinefelter syndrome, cardiovascular system, and thromboembolic disease: review of literature and clinical perspectives. Eur J Endocrinol. 2016;175(1):R27-40. Review.
  • 6. Hardelin JP, Dodé C.The Complex Genetics of Kallmann Syndrome: KAL1, FGFR1, FGF8, PROKR2, PROK2, et al. Sex Dev. 2008;2(4-5):181-93. Review.
  • 7. Aartsma-Rus A, Ginjaar IB, Bushby K. The importance of genetic diagnosis for Duchenne muscular dystrophy. J Med Genet. 2016;53(3):145-51. Review.
  • 8. Aartsma-Rus A, Ginjaar IB, Bushby K.Wiskott-Aldrich syndrome; an x-linked primary immunodeficiency disease with unique and characteristic features. J Med Genet. 2016;53(3):145-51. Review.
  • 9. Suri D, Rawat A, Singh S.X-linked Agammaglobulinemia. Indian J Pediatr. 2016;83(4):331-7. Review.
  • 10. Lexner MO, Bardow A, Juncker I, Jensen LG, Almer L, Kreiborg S, Hertz JM.X-linked hypohidrotic ectodermal dysplasia. Genetic and dental findings in 67 Danish patients from 19 families. Clin Genet. 2008;74(3):252-9.
  • 11. Touraine RL, Zeniou M, Hanauer A.A syndromic form of X-linked mental retardation the Coffin-Lowry syndrome. Eur J Pediatr. 2002 Apr;161(4):179-87. Review.
  • 12. Rheault MN.Women and Alport syndrome. PediatrNephrol. 2012;27(1):41-6. Review

Documents
PGD X-Linked™. PGD NGS for X-linked diseases.