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  1. Reproductive Genetics

Reproductive Genetics

Identifying genetic causes of infertility facilitates informed decisions and family planning for your patients. With 10% of infertility cases being linked to genetic factors, their detection can provide vital answers. Genetic testing can be the key for a significant number of infertile couples trying to have children, as understanding the reason for infertility can often lead to success with a range of assisted reproductive techniques.

CentoScreen®

CentoScreen® is our comprehensive screening panel including recessive and X-linked disorders. It provides the opportunity to make informed decisions and review the range of options available to guide pregnancy and family planning.

CentoScreen® SOLO

Includes complete panel evaluation with CNV analysis of 34 genes.

No. of genes:330
TAT:15 days
Coverage:~99% >20x

CentoScreen® Paired Pack

Includes complete panel evaluation with CNV analysis of 34 genes plus risk gene analysis of the partner.

No. of genes:330
TAT:15 days
Coverage:~99% >20x

CentoScreen® DUO

Includes complete panel evaluation with CNV analysis of 34 genes for each partner.

No. of genes:330
TAT:15 days
Coverage:~99% >20x

COMMON SYNDROMES AND DISORDERS COVERED

More than 300 common autosomal recessive and X-linked disorders

Available Downloads for CentoScreen®

  • CentoScreen® - Full list of genes and diseases

    Download

Infertility panel

Our infertility panel is recommended for patients trying to conceive for one year or longer, with known fertility problems, who have experienced more than one miscarriage, with irregular or absent menstruation, with low sperm count, form, or movement, or with absence of development of secondary sexual features. Our panel includes the most important genes related to infertility in males and females. Knowing the exact cause of infertility allows for better diagnostic decisions and enables enhanced counseling for couples.

No. of genes:94
TAT:25 days
Coverage:≥99.5% ≥20x
Details:

CNV analysis included
Repeat expansion analysis: AR, FMR1
MLPA: Aneuploidy, AZF region


Gene OMIM (Gene) Associated diseases (OMIM) Inheritance
ANOS1 300836 Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) XLR
AR 313700 Prostate Cancer; Androgen insensitivity; X-linked hypospadias type 1; partial androgen insensitivity with or without breast cancer; Spinal and bulbar muscular atrophy of Kennedy AD, XLR
ARL13B 608922 Joubert syndrome 8 AR
ARL6 608845 Bardet-Biedl syndrome type 1; Bardet-Biedl syndrome 3; Retinitis pigmentosa 55 AR, DiR
BBS1 209901 Bardet-Biedl syndrome type 1 AR, DiR
BBS10 610148 Bardet-Biedl syndrome type 10 AR
BBS12 610683 Bardet-Biedl syndrome type 12 AR
BBS2 606151 Bardet-Biedl syndrome type 2; retinitis pigmentosa type 74 AR
BBS4 600374 Bardet-Biedl syndrome 4 AR
BBS5 603650 Bardet-Biedl syndrome 5 AR
BBS7 607590 Bardet-Biedl syndrome type 7 AR
BBS9 607968 Bardet-Biedl syndrome type 9 AR
BMP15 300247 Ovarian dysgenesis 2 XL
C8orf37 614477 Cone-rod dystrophy 16; Bardet-Biedl syndrome type 21 AR
CATSPER1 606389 Spermatogenic failure 7 AR
CC2D2A 612013 COACH syndrome; Meckel syndrome 6; Joubert syndrome 9 AR
CCDC28B 610162 Bardet-Biedl syndrome type 1 AR, DiR
CEP164 614848 nephronophthisis 15 AR
CEP290 610142 Joubert syndrome type 5; Senior-Loken syndrome type 6; Meckel syndrome type 4; Leber congenital amaurosis type 10; Bardet-Biedl syndrome type 14 AR
CFTR 602421 hereditary pancreatitis; Bronchiectasis with or without elevated sweat chloride type 1; cystic fibrosis; congenital bilateral absence of vas deferens AD, AR
CHD7 608892 CHARGE syndrome; hypogonadotropic hypogonadism-5 with or without anosmia AD
DUSP6 602748 Hypogonadotropic hypogonadism 19 with or without anosmia AD
ENPP1 173335 noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; Arterial calcification, generalized, of infancy, 1; OBESITY; Hypophosphatemic rickets, autosomal recessive, 2; Cole disease AD, AR
FEZF1 613301 AR
FGF17 603725 Hypogonadotropic hypogonadism 20 with or without anosmia AD
FGF8 600483 hypogonadotropic hypogonadism 6 with or without anosmia AD
FGFR1 136350 Craniofacial-skeletal-dermatologic dysplasia; Jackson-Weiss syndrome; hypogonadotropic hypogonadism-2 with or without anosmia; Osteoglophonic dysplasia; Hartsfield syndrome AD
FLRT3 604808 AD
FMR1 309550 fragile X tremor/ataxia syndrome; fragile X mental retardation syndrome; premature ovarian failure type 1 XL, XLD
FSHB 136530 AR
FSHR 136435 Ovarian dysgenesis 1; Ovarian response to FSH stimulation; Ovarian hyperstimulation syndrome AD, AR
GNRH1 152760 hypogonadotropic hypogonadism 12 with or without anosmia AR
GNRHR 138850 hypogonadotropic hypogonadism 7 with or without anosmia AR
HESX1 601802 Septooptic dysplasia AD, AR
HEXA 606869 Tay-Sachs disease/ GM2-gangliosidosis AR
HFE 613609 Alzheimer Disease; hepatoerythropoietic porphyria; variegate porphyria; hemochromatosis type 1; susceptibility to microvascular complications of diabetes type 7; Transferrin serum level QTL2 AD, AR
HS6ST1 604846 hypogonadotropic hypogonadism 15 with or without anosmia AD
IFT172 607386 Short-rib thoracic dysplasia 10 with or without polydactyly AR
IFT27 615870 Bardet-Biedl syndrome 19 AR
IL17RD 606807 Hypogonadotropic hypogonadism type 18 with or without anosmia AD, AR, DiD
INPP5E 613037 Joubert syndrome 1; Mental retardation, truncal obesity, retinal dystrophy, and micropenis AR
KIF7 611254 Acrocallosal syndrome; Joubert syndrome 12; Hydrolethalus syndrome 2 AR
KISS1 603286 hypogonadotropic hypogonadism 13 with or without anosmia AR
KISS1R 604161 Precocious puberty, central, 1; hypogonadotropic hypogonadism 8 with or without anosmia AD, AR
LEP 164160 Leptin deficiency AR
LEPR 601007 Morbid obesity due to leptin receptor deficiency AR
LHB 152780 Hypogonadotropic hypogonadism 23 with or without anosmia AR
LHCGR 152790 male precocious puberty; Leydig cell hypoplasia types I & II AD, AR
LHX3 600577 Pituitary hormone deficiency, combined, 3 AR
LHX4 602146 Pituitary hormone deficiency, combined, 4 AD
LZTFL1 606568 Bardet-Biedl syndrome 17 AR
MKKS 604896 McKusick-Kaufman syndrome; Bardet-Biedl syndrome type 6 AR
MKS1 609883 Meckel syndrome type 1; Bardet-Biedl syndrome type 13; Joubert syndrome type 28 AR
MYO7A 276903 Usher syndrome type 1B; deafness type 2; autosomal dominant deafness type 11 AD, AR
NPHP1 607100 nephronophthisis 1; Joubert syndrome 4 AR
NPHP3 608002 Renal-hepatic-pancreatic dysplasia 1; Meckel syndrome 7; nephronophthisis 3 AR
NR0B1 300473 46XY sex reversal 2, dosage-sensitive; Adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism XL, XLR
NR0B2 604630 OBESITY AD, AR
NR5A1 184757 46XY sex reversal 3 AD
NSMF 608137 hypogonadotropic hypogonadism 9 with or without anosmia AD
OFD1 300170 Simpson-Golabi-Behmel syndrome type 2; Retinitis pigmentosa 23; Joubert syndrome 10; oral-facial-digital syndrome 1 XLD, XLR
PCSK1 162150 Obesity with impaired prohormone processing AR
PHF6 300414 Borjeson-Forssman-Lehmann syndrome XLR
PNPLA6 603197 Boucher-Neuhauser syndrome; spastic paraplegia 39 AR
POLR3B 614366 hypomyelinating leukodystrophy-8 AR
POMC 176830 OBESITY; Proopiomelanocortin Deficiency AD, AR
POU1F1 173110 Pituitary hormone deficiency, combined, 1 AD, AR
PPARG 601487 noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; OBESITY; Lipodystrophy, familial partial, type 3 AD, AR
PROK2 607002 hypogonadotropic hypogonadism 4 with or without anosmia AD
PROKR2 607123 hypogonadotropic hypogonadism 3 with or without anosmia AD
PROM1 604365 Stargardt disease 4; Macular dystrophy, retinal, 2; Retinitis pigmentosa 41; Cone-rod dystrophy 12 AD, AR
PROP1 601538 Pituitary hormone deficiency, combined, 2 AR
PRPH2 179605 Retinitis punctata albescens; Patterned dystrophy of retinal pigment epithelium (macular dystrophy); Retinitis pigmentosa 7; vitelliform macular dystrophy-3; Choriodal dystrophy, central areolar 2 AD, AR
RDH5 601617 Retinitis punctata albescens AD, AR
RHO 180380 Retinitis punctata albescens; Night blindness, congenital stationary, autosomal dominant 1; Retinitis Pigmentosa 4 AD, AR
RLBP1 180090 Retinitis punctata albescens AD, AR
RPGRIP1L 610937 COACH syndrome; Joubert syndrome 7; Meckel syndrome type 5 AR
SDCCAG8 613524 Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 AR
SEMA3A 603961 hypogonadotropic hypogonadism 16 with or without anosmia AD
SOX10 602229 PCWH syndrome; Waardenburg syndrome type 2E; Waardenburg syndrome, type 4C AD
SOX2 184429 Microphthalmia, Syndromic 3 AD
SOX3 313430 Mental Retardation, X-Linked, With Panhypopituitarism; Panhypopituitarism, X-linked XL
SPRY4 607984 Hypogonadotropic hypogonadism 17 with or without anosmia AD
SRY 480000 46XX sex reversal 1 XLD, YL
TAC3 162330 hypogonadotropic hypogonadism 10 with or without anosmia AR
TACR3 162332 hypogonadotropic hypogonadism 11 with or without anosmia AR
TMEM67 609884 COACH syndrome; Meckel Syndrome, Type 3; Joubert syndrome 6; nephronophthisis 11; Bardet-Biedl syndrome type 14 AR
TRIM32 602290 limb-girdle muscular dystrophy type 2H; Bardet-Biedl syndrome 11 AR
TTC21B 612014 Short-rib thoracic dysplasia 4 with or without polydactyly; nephronophthisis 12 AD, AR
TTC8 608132 retinitis pigmentosa type 51; Bardet-Biedl syndrome type 8 AR
TUBB8 616768 AD, AR
WDPCP 613580 Bardet-Biedl syndrome 15 AR
WDR11 606417 hypogonadotropic hypogonadism 14 with or without anosmia AD
ZP1 195000 Oocyte maturation defect AR

COMMON SYNDROMES AND DISORDERS COVERED

Female infertility
Male infertility

AVAILABLE DOWNLOADS FOR Infertility panel

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