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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
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 |
| 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 |
