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      Genomics Precision Diagnostic > Reproductive > Reproductive Infertility

      Infertility – 166 genes

      Infertility is defined as the failure to conceive, regardless of the cause, after 1 year of unprotected intercourse. 
      Overview
      Indication
      Clinical Utility
      Genes & Diseases
      Methodology
      References

      Overview

      • Infertility is defined as the failure to conceive, regardless of the cause, after 1 year of unprotected intercourse. This condition affects approximately 10-15% of reproductive-aged couples. Infertility can be caused by a female factor, male factor or environmental. The female etiology of infertility can be cervical, uterine, ovarian, tubal or peritoneal. The male factors that affect fertility include pretesticular, testicular or post–testicular.
      • Environmental factors that affect fertility include excessive exercise, occupational, toxic substances, inadequate diet associated with extreme weight loss or gain as well as advanced age. In our current society, some women postpone childbearing until their 30s and beyond, so they tend to have more difficulty conceiving and increased risk of miscarriage. Clinically, it is a highly heterogeneous pathology with a complex etiology that includes environmental and genetic factors.  It is estimated that nearly 50% of infertility cases are due to genetic defects.  
      • The Igenomix Infertility Precision Panel can be used to make a directed and accurate differential diagnosis of inability to conceive ultimately leading to a better management and achieve a healthy baby at home. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved.  

      Indication

      The Igenomix Infertility Precision Panel is indicated for those patients with clinical suspicion of infertility presenting with the following manifestations: 

      • Inability to conceive after 1 year of unprotected intercourse 
      • Family history of infertility 
      • Recurrent miscarriages 
      • Family history of recurrent miscarriages 

      Clinical Utility

      The clinical utility of this panel is: 

      • The genetic and molecular confirmation for an accurate clinical diagnosis of a symptomatic patient.  
      • Early initiation of treatment with a multidisciplinary team for an initial consultation, workup and assisted reproductive technologies (ART). 
      • Risk assessment of asymptomatic family members according to the mode of inheritance. 

      Genes & Diseases

      All genes and diseases

      Gene

      OMIM Diseases

      Inheritance*

      % Gene Coverage (20x)

      HGMD**

      ADGRG2

      Congenital Bilateral Absence Of Vas Deferens

      X,G

      99.64%

      NA of NA

      AMH

      Persistent Mullerian Duct Syndrome, Types I And II

      AR

      98.17%

      76 of 96

      AMHR2

      Persistent Mullerian Duct Syndrome, Types I And II

      AR

      100%

      87 of 95

      ANOS1

      Hypogonadotropic Hypogonadism With Or Without Anosmia, Kallmann Syndrome, Normosmic Congenital Hypogonadotropic Hypogonadism

      X,XR,G

      96.86%

      NA of NA

      AR

      Androgen Insensitivity Syndrome, X-linked hypospadias, Kennedy Disease, Partial Androgen Insensitivity Syndrome, Prostate Cancer, Reifenstein Syndrome, X-linked Spinal And Bulbar Muscular Atrophy

      AD,X,XR,G

      97.96%

      NA of NA

      ARL13B

      Joubert Syndrome

      AR

      99.77%

      10 of 10

      ARL6

      Bardet-Biedl Syndrome, Retinitis Pigmentosa

      AD,AR,X,XR,G

      100%

      17 of 21

      AURKC

      Male Infertility With Large-Headed, Multiflagellar, Polyploid Spermatozoa

      AR

      100%

      5 of 5

      BBS1

      Bardet-Biedl Syndrome

      AR

      100%

      102 of 105

      BBS10

      Bardet-Biedl Syndrome

      AR

      100%

      114 of 114

      BBS12

      Bardet-Biedl Syndrome

      AR

      99.78%

      61 of 61

      BBS2

      Bardet-Biedl Syndrome, Retinitis Pigmentosa

      AR

      100%

      99 of 100

      BBS4

      Bardet-Biedl Syndrome

      AR

      100%

      45 of 48

      BBS5

      Bardet-Biedl Syndrome

      AR

      99.80%

      30 of 31

      BBS7

      Bardet-Biedl Syndrome

      AR

      100%

      48 of 48

      BBS9

      Bardet-Biedl Syndrome

      AR

      99.56%

      50 of 51

      BMP15

      46,XX Gonadal Dysgenesis, Ovarian Dysgenesis

      X,G

      98.05%

      NA of NA

      C8ORF37

      Bardet-Biedl Syndrome, Cone Rod Dystrophy, Retinitis Pigmentosa

      AD,AR,X,XR,G

      na

      na

      CAPN10

      Noninsulin-Dependent Diabetes Mellitus, Metabolic Syndrome, Polycystic Ovarian Syndrome

      –

      99.92%

      4 of 4

      CATSPER1

      Spermatogenic Failure

      AR

      99.97%

      4 of 4

      CATSPER2

      Deafness-Infertility Syndrome

      AR

      99.87%

      1 of 1

      CBX2

      46,XY Complete Gonadal Dysgenesis, 46XY Sex Reversal

      AR

      100%

      6 of 6

      CC2D2A

      Coach Syndrome, Joubert Syndrome, Meckel Syndrome

      AR

      99.43%

      98 of 100

      CCDC28B

      Bardet-Biedl Syndrome

      AR

      99.83%

      1 of 1

      CEP164

      Nephronophthisis, Senior-Loken Syndrome

      AR

      99.98%

      10 of 10

      CEP290

      Bardet-Biedl Syndrome, Joubert Syndrome, Leber Congenital Amaurosis, Meckel Syndrome, Senior-Loken Syndrome

      AR

      96.47%

      293 of 327

      CFTR

      Bronchiectasis, Congenital Bilateral Absence Of Vas Deferens, Cystic Fibrosis, Hereditary Chronic Pancreatitis, Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation

      AD,AR

      95.45%

      1615 of 1730

      CHD7

      CHARGE Syndrome, Hypogonadotropic Hypogonadism With Or Without Anosmia, Kallman Syndrome, Omenn Syndrome

      AD

      96.25%

      823 of 896

      CYP11A1

      46,XY Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency, Congenital Adrenal Insufficiency With 46,XY Sex Reversal

      –

      100%

      39 of 39

      CYP17A1

      46,XY Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency, Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency

      AR

      100%

      127 of 127

      CYP19A1

      Aromatase Deficiency, Aromatase Excess Syndrome

      AD,AR

      100%

      33 of 35

      CYP21A2

      Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency

      AR

      99.98%

      278 of 280

      DENND1A

      Polycystic Ovarian Syndrome

      –

      98.61%

      NA of NA

      DHH

      46XY Complete Gonadal Dysgenesis, 46XY Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome, 46XY Sex Reversal

      AR

      99.85%

      21 of 21

      DIAPH2

      Premature Ovarian Failure

      X,XD,G

      98.66%

      NA of NA

      DMC1

      Infertility Due to Meiotic and/or Mitotic Failure

      –

      100%

      2 of 2

      DNAH1

      Primary Ciliary Dyskinesia, Spermatogenic Failure

      AR

      100%

      58 of 58

      DNAH5

      Primary Ciliary Dyskinesia With Or Without Situs Inversus, Primary Ciliary Dyskinesia

      AR

      100%

      277 of 278

      DNAI1

      Kartagener Syndrome, Primary Ciliary Dyskinesia

      AR

      96.91%

      43 of 43

      DPY19L2

      Spermatogenic Failure

      AR

      97.65%

      16 of 20

      DUSP6

      Hypogonadotropic Hypogonadism With Or Without Anosmia, Kallmann Syndrome, Normosmic Congenital Hypogonadotropic Hypogonadism

      AD,AR

      99.36%

      4 of 4

      ENPP1

      Generalized Arterial Calcification Of Infancy, Autosomal Recessive Hypophosphatemic Rickets, Cole Disease, Noninsulin-dependent Diabetes Mellitus, Autosomal Recessive Hypophosphatemic Rickets, Obesity, Pseudoxanthoma Elasticum

      AD,AR,MU,P

      96.59%

      73 of 75

      ESR1

      Breast Cancer, Estrogen Resistance Syndrome, Migraine With Or Without Aura

      AD,AR

      99.98%

      14 of 14

      F2

      Congenital Factor II Deficiency, Congenital Prothrombin Deficiency, Ischemic Stroke, Pregnancy Loss, Venous Thromboembolism

      AD,AR,MU

      100%

      66 of 66

      F5

      Budd-Chiari Syndrome, Memembranous Obstruction Of Inferior Vena Cava, Congenital Factor V Deficiency, Ischemic Stroke, Recurrent Pregnancy Loss, Thrombophilia Due To Deficiency Of Activated Protein C Cofactor

      AD,AR,MU

      99.99%

      165 of 167

      FEZF1

      Hypogonadotropic Hypogonadism With Or Without Anosmia, Kallmann Syndrome

      AR

      99.95%

      3 of 3

      FGF17

      Hypogonadotropic Hypogonadism With Or Without Anosmia, Kallmann Syndrome, Normosmic Congenital Hypogonadotropic Hypogonadism

      AD,AR

      99.98%

      8 of 8

      FGF8

      Alobar Holoprosencephaly, Kallmann Syndrome, Lobar Holoprosencephaly, Microform Holoprosencephaly, Midline Interhemispheric Variant Of Holoprosencephaly, Normosmic Congenital Hypogonadotropic Hypogonadism, Septopreoptic Holoprosencephaly

      AD

      98.36%

      38 of 38

      FGFR1

      Encephalocraniocutaneous Lipomatosis, Hartsfield Syndrome, Isolated Trigonocephaly, Jackson-Weiss Syndrome, Kallmann Syndrome, Lobar Holoprosencephaly, Microform Holoprosencephaly, Normosmic Congenital Hypogonadotropic Hypogonadism, Oligodontia, Osteoglophonic Dysplasia, Pfeiffer Syndrome, Septo-Optic Dysplasia Spectrum, Nonsyndromic Trigonocephaly

      AD

      100%

      279 of 280

      FIGLA

      Premature Ovarian Failure

      AD

      98.47%

      4 of 5

      FLRT3

      Hypogonadotropic Hypogonadism With Or Without Anosmia, Kallman Syndrome

      AD

      99.98%

      7 of 7

      FMR1

      Fragile X Mental Retardation Syndrome, Fragile X-Associated Tremor/Ataxia Syndrome, Premature Ovarian Failure, XQ27.3q28 Duplication Syndrome

      X,XD,G

      99.80%

      NA of NA

      FOXL2

      Blepharophimosis, Ptosis And Epicanthus Inversus, Premature Ovarian Failure

      AD

      89.36%

      136 of 201

      FOXO3

      Chromosome 6Q Deletion, Rhabdomyosarcoma

      –

      95.67%

      NA of NA

      FSHB

      Hypogonadotropic Hypogonadism Without Anosmia, Isolated Follicle Stimulating Hormone Deficiency

      AR

      100%

      8 of 8

      FSHR

      46,XX Gonadal Dysgenesis, Ovarian Dysgenesis, Ovarian Hyperstimulation Syndrome

      AD,AR

      100%

      41 of 43

      GALNTL5

      Male Infertility With Impairment of Sperm Motility

       

      99.95%

      2 of 2

      GALT

      Classic Galactosemia

      AR

      100%

      350 of 350

      GDF9

      Premature Ovarian Failure

      AR

      100%

      13 of 13

      GNRH1

      Hypogonadotropic Hypogonadism With Or Without Anosmia, Normosmic Congenital Hypogonadotropic Hypogonadism

      AR

      100%

      12 of 12

      GNRHR

      Hypogonadotropic Hypogonadism Without Anosmia, Normosmic Congenital Hypogonadotropic Hypogonadism

      AR

      100%

      59 of 59

      HESX1

      Combined Pituitary Hormone Deficiencies, Hypothyroidism, Kallmann Syndrome, Pituitary Stalk Interruption Syndrome, Septo-Optic Dysplasia Spectrum

      AD,AR

      100%

      26 of 26

      HEXA

      Tay-Sachs Disease

      AR

      100%

      205 of 206

      HFE

      Alzheimer Disease, Hemochromatosis, Porphyria Cutanea Tarda, Porphyria Variegata

      AD,AR

      100%

      55 of 57

      HFM1

      Premature Ovarian Failure

      AR

      99.17%

      10 of 10

      HS6ST1

      Hypogonadotropic Hypogonadism With Or Without Anosmia, Kallmann Syndrome, Normosmic Congenital Hypogonadotropic Hypogonadism

      AD

      99.97%

      8 of 8

      HSD17B3

      46,XY Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency, Male Pseudohermaphroditism

      AR

      100%

      61 of 61

      HSF2

      Familial Erythroleukemia, Y-linked Spermatogenic Failure

       

      99.90%

      1 of 1

      IFT172

      Bardet-Biedl Syndrome, Jeune Syndrome, Retinitis Pigmentosa, Short-Rib Thoracic Dysplasia With Or Without Polydactyly

      AR

      100%

      37 of 37

      IFT27

      Bardet-Biedl Syndrome

      AR

      100%

      5 of 5

      IL17RD

      Hypogonadotropic Hypogonadism With Or Without Anosmia, Kallmann Syndrome

      AD,AR

      99.95%

      17 of 17

      INPP5E

      Joubert Syndrome, Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis

      AR

      99.89%

      56 of 56

      KIF7

      Acrocallosal Syndrome, Hydrolethalus Syndrome, Macrocephaly With Multiple Epiphyseal Dysplasia And Distinctive Facies, Orofaciodigital Syndrome

      AR

      94.91%

      47 of 50

      KISS1

      Hypogonadotropic Hypogonadism With Or Without Anosmia, Normosmic Congenital Hypogonadotropic Hypogonadism

      AR

      100%

      9 of 10

      KISS1R

      Hypogonadotropic Hypogonadism With Or Without Anosmia, Kallmann Syndrome, Normosmic Congenital Hypogonadotropic Hypogonadism, Central Precocious Puberty

      AD,AR

      99.41%

      42 of 43

      KLHL10

      Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation, Spermatogenic Failure

      AD

      99.98%

      5 of 5

      LEP

      Obesity Due To Congenital Leptin Deficiency

      AR

      100%

      19 of 19

      LEPR

      Obesity Due To Leptin Receptor Gene Deficiency

      AR

      97.92%

      49 of 49

      LHB

      Hypogonadotropic Hypogonadism Without Anosmia

      AR

      100%

      11 of 11

      LHCGR

      Familial Male-Limited Precocious Puberty, Hypergonadotropic Hypogonadism

      AD,AR

      100%

      75 of 75

      LHX3

      Sensorineural Deafness With Pituitary Dwarfism, Hypothyroidism, Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome

      AR

      99.97%

      18 of 19

      LHX4

      Combined Pituitary Hormone Deficiencies, Hypothyroidism, Combined Pituitary Hormone Deficiency, Pituitary Stalk Interruption Syndrome

      AD

      99.95%

      21 of 22

      LHX8

      Odontoma, Cerebral Hemisphere Lipoma

       

      100%

      2 of 2

      LZTFL1

      Bardet-Biedl Syndrome

      AR

      99.83%

      4 of 4

      MAP3K1

      46XY Complete Gonadal Dysgenesis, 46XY Partial Gonadal Dysgenesis, 46XY Sex Reversal

      AD

      96.50%

      31 of 32

      MCM8

      Premature Ovarian Failure, Natural At Age Menopause

      AR

      99.94%

      10 of 10

      MCM9

      Ovarian Dysgenesis

      AR

      99.93%

      12 of 12

      MKKS

      Bardet-Biedl Syndrome, Mckusick-Kaufman Syndrome

      AR

      89.96%

      71 of 71

      MKS1

      Bardet-Biedl Syndrome, Joubert Syndrome, Meckel Syndrome,meckel Syndrome, Type 1

      AR

      99.98%

      49 of 49

      MSH4

      Fanconi Anemia Complementation Group A, Premature Ovarian Failure, Lynch Syndrome

       

      99.70%

      3 of 3

      MTHFR

      Homocystinuria Due To Deficiency Of N(5,10)-Methylene Tetrahydrofolate Reductase Activity, Isolated Anencephaly, Isolated Exencephaly, Neural Tube Defects, Schizophrenia, Thrombophilia Venous Thromboembolism

      AD,AR

      100%

      122 of 122

      MYO7A

      Autosomal Dominant Sensorineural Deafness, Autosomal Recessive Neurosensory Deafness, Usher Syndrome Type 1, Type 2

      AD,AR

      100%

      579 of 580

      NANOS1

      Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation, Male Infertility With Teratozoospermia, Spermatogenic Failure

      AD

      75.55%

      2 of 3

      NANOS3

      Freemartinism, Pediatric Germ Cell Cancer

      –

      99.99%

      2 of 2

      NOBOX

      Premature Ovarian Failure

      AD

      90.55%

      14 of 17

      NPHP1

      Bardet-Biedl Syndrome, Joubert Syndrome, Nephronophthisis, Senior-Loken Syndrome

      AR

      100%

      58 of 59

      NPHP3

      Meckel Syndrome, Nephronophthisis, NPHP3-related Meckel-Like Syndrome, Renal-Hepatic-Pancreatic Dysplasia, Senior-Loken Syndrome

      AR

      99.99%

      84 of 84

      NR0B1

      46XX Testicular Disorder Of Sex Development, 46XY Complete Gonadal Dysgenesis, 46XY Partial Gonadal Dysgenesis, Congenital Adrenal Hypoplasia

      X,XR,G

      99.87%

      NA of NA

      NR0B2

      Obesity

      AD,AR,MU,P

      99.09%

      15 of 15

      NR5A1

      46XX Gonadal Dysgenesis, 46XX Ovotesticular Disorder Of Sex Development, 46XX Sex Reversal, 46XX Testicular Disorder Of Sex Development, 46XY Complete Gonadal Dysgenesis, Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation, Premature Ovarian Failure, Spermatogenic Failure

      AD

      99.97%

      222 of 224

      NSMF

      Hypogonadotropic Hypogonadism With Or Without Anosmia, Kallmann Syndrome, Normosmic Congenital Hypogonadotropic Hypogonadism

      AD

      99.69%

      11 of 11

      OFD1

      Joubert Syndrome, Orofaciodigital Syndrome Type 1, Type 6, Primary Ciliary Dyskinesia, Retinitis Pigmentosa, Simpson-Golabi-Behmel Syndrome Type 2

      X,XR,XD,G

      98.09%

      NA of NA

      PADI6

      Preimplantation Embryonic Lethality

      AR

      na

      na

      PCSK1

      Obesity Due To Prohormone Convertase I Deficiency

      AR

      99.98%

      45 of 45

      PGRMC1

      Preterm Premature Ruputre of Membranes, Placental choriocarcinoma, Premature Ovarian Failure

      –

      100%

      NA of NA

      PHF6

      Borjeson-Forssman-Lehmann Syndrome

      X,XR,G

      99.93%

      NA of NA

      PICK1

      Spermatogenic Failure, TARP syndrome, Depression

       

      100%

      1 of 1

      PLCZ1

      Spermatogenic Failure

      AR

      99.78%

      8 of 8

      PNPLA6

      Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome, Autosomal Recessive Spastic Paraplegia Type, Boucher-Neuhauser Syndrome, Cerebellar Ataxia-Hypogonadism Syndrome, Laurence-Moon Syndrome, Oliver-Mcfarlane Syndrome, Autosomal Recessive Spastic Paraplegia

      AR

      100%

      65 of 65

      POF1B

      Premature Ovarian Failure

      X,XR,G

      99.54%

      NA of NA

      POLR3B

      Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome, Hypomyelinating Leukodystrophy With Or Without Oligodontia And/Orhypogonadotropic Hypogonadism

      AR

      100%

      61 of 61

      POMC

      Obesity Due To Pro-opiomelanocortin Deficiency

      AD,AR,MU,P

      99.98%

      40 of 40

      POU1F1

      Combined Pituitary Hormone Deficiencies, Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function, Pituitary Hormone Deficiency

      AD,AR

      100%

      43 of 44

      PPARG

      Berardinelli-Seip Congenital Lipodystrophy, Carotid Intimal Medial Thickness ,Noninsulin-Dependent Diabetes Mellitus, Lipodystrophy, Obesity,pparg-related Familial Partial Lipodystrophy

      AD,AR,MU,P

      99.94%

      53 of 53

      PROC

      Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency

      AD,AR

      99.94%

      406 of 406

      PROK2

      Hypogonadotropic Hypogonadism With Or Without Anosmia, Kallmann Syndrome, Normosmic Congenital Hypogonadotropic Hypogonadism

      AD

      100%

      20 of 20

      PROKR2

      Hypogonadotropic Hypogonadism With Or Without Anosmia, Kallmann Syndrome, Normosmic Congenital Hypogonadotropic Hypogonadism, Pituitary Stalk Interruption Syndrome, Septo-Optic Dysplasia Spectrum

      AD

      100%

      64 of 64

      PROM1

      Cone Rod Dystrophy, Macular Dystrophy, Retinitis Pigmentosa, Stargardt Disease

      AD,AR

      99.61%

      90 of 93

      PROP1

      Combined Pituitary Hormone Deficiencies, Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function, Non-Acquired Panhypopituitarism, Pituitary Dwarfism

      AR

      100%

      35 of 36

      PROS1

      Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency, Thrombophilia Due To Protein S Deficiency

      AD,AR

      100%

      403 of 405

      PRPH2

      Adult-Onset Foveomacular Vitelliform Dystrophy, Central Areolar Choroidal Dystrophy, Cone Rod Dystrophy, Retinitis Punctata Albescens, Vitelliform Macular Dystrophy, Patterned Dystrophy Of Retinal Pigment Epithelium, Retinitis Pigmentosa, Stargardt Disease

      AD,AR

      100%

      188 of 188

      PSMC3IP

      46XX Gonadal Dysgenesis, Ovarian Dysgenesis

      AR

      99.96%

      9 of 9

      RDH5

      Fundus Albipunctatus, Retinitis Punctata Albescens

      AD,AR

      100%

      54 of 54

      REC8

      Azoospermia, 46XX Gonadal Dysgenesis

       

      100%

      4 of 4

      RHO

      Congenital Stationary Night Blindness, Fundus Albipunctatus, Retinitis Punctata Albescens, Retinitis Pigmentosa

      AD,AR

      100%

      229 of 229

      RLBP1

      Bothnia Retinal Dystrophy, Fundus Albipunctatus, Retinitis Punctata Albescens, Rod-Cone Dystrophy, Retinitis Pigmentosa

      AD,AR

      100%

      32 of 33

      RPGRIP1L

      Coach Syndrome, Joubert Syndrome, Meckel Syndrome

      AR

      99.96%

      52 of 52

      RSPO1

      Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46XX Sex Reversal, Palmoplantar Keratoderma-XX Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome

      AR

      100%

      6 of 7

      SDCCAG8

      Bardet-Biedl Syndrome, Senior-Loken Syndrome

      AR

      96.29%

      18 of 19

      SEMA3A

      Brugada Syndrome, Hypogonadotropic Hypogonadism With Or Without Anosmia, Kallmann Syndrome

      AD

      100%

      29 of 29

      SEPTIN12

      Spermatogenic Failure

      AD

      99.84%

      5 of 5

      SERPINC1

      Antithrombin III Deficiency, Hereditary Thrombophilia Due To Congenital Antithrombin Deficiency

      AD,AR

      100%

      400 of 407

      SLC26A8

      Spermatogenic Failure

      AD

      98.81%

      5 of 5

      SMC1B

      Corneal Dystrophy, 46XX Gonadal Dysgenesis

       

      99.22%

      3 of 3

      SOHLH1

      Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation, Ovarian Dysgenesis, Spermatogenic Failure

      AD,AR

      100%

      9 of 10

      SOX10

      Kallmann Syndrome, Peripheral Demyelinating Neuropathy, Central Dysmyelinating Leukodystrophy, Waardenburg Syndrome, Hirschsprung Disease, Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, Waardenburg-Shah Syndrome

      AD

      99.74%

      139 of 147

      SOX2

      Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome, Microphthalmia, Septo-Optic Dysplasia Spectrum

      AD

      99.91%

      78 of 78

      SOX3

      46XX Testicular Disorder Of Sex Development, X-linked Mental Retardation With Isolated Growth Hormone Deficiency, Non-Acquired Panhypopituitarism, Septo-Optic Dysplasia Spectrum

      X,G

      92.88%

      NA of NA

      SOX9

      46XX Ovotesticular Disorder Of Sex Development, 46XX Testicular Disorder Of Sex Development, 46XY Complete Gonadal Dysgenesis, 46XY Partial Gonadal Dysgenesis, Campomelic Dysplasia, Isolated Pierre Robin Syndrome

      AD

      97.28%

      87 of 95

      SPATA16

      Spermatogenic Failure

      AR

      99.94%

      1 of 2

      SPRY4

      Hypogonadotropic Hypogonadism With Or Without Anosmia, Kallmann Syndrome, Normosmic Congenital Hypogonadotropic Hypogonadism

      AD,AR

      99.72%

      13 of 13

      SRY

      45X/ 46XY Mixed Gonadal Dysgenesis, 46XX Ovotesticular Disorder Of Sex Development, 46XX Testicular Disorder Of Sex Development, 46XY Complete Gonadal Dysgenesis, 46XY Partial Gonadal Dysgenesis, 46XX Sex Reversal, 46XY Sex Reversal

      X,XD,Y,G

      45%

      NA of NA

      STAG3

      Premature Ovarian Failure

      AR

      98.88%

      16 of 16

      SULT2A1

      Mixed Epithelial Stromal Tumor, Adrenal Cortical Adenoma, Polycystic Ovarian Syndrome, Adrenal Adenoma, Conn’s Syndrome

      –

      99.97%

      NA of NA

      SUN5

      Male Infertility Due To Acephalic Spermatozoa, Spermatogenic Failure

      AR

      100%

      14 of 14

      SYCE1

      Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation, Premature Ovarian Failure, Spermatogenic Failure

      AR

      100%

      2 of 3

      SYCP3

      Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation, Spermatogenic Failure

      AD

      100%

      5 of 5

      TAC3

      Hypogonadotropic Hypogonadism With Or Without Anosmia, Normosmic Congenital Hypogonadotropic Hypogonadism

      AR

      100%

      10 of 10

      TACR3

      Hypogonadotropic Hypogonadism With Or Without Anosmia, Kallmann Syndrome, Normosmic Congenital Hypogonadotropic Hypogonadism

      AR

      99.97%

      40 of 40

      TAF4B

      Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation, Spermatogenic Failure

      AR

      97.92%

      0 of 1

      TEX11

      Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation, Spermatogenic Failure

      X,XR,G

      96.52%

      NA of NA

      TEX15

      Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation, Spermatogenic Failure

      AR

      99.16%

      6 of 7

      THADA

      Adenoma, Polycystic Ovary Syndrome

      –

      98.52%

      NA of NA

      TLE6

      Preimplantation Embryonic Lethality

      AR

      100%

      2 of 2

      TMEM67

      Bardet-Biedl Syndrome, Coach Syndrome, Joubert Syndrome, Meckel Syndrome, Nephronophthisis, Rhyns Syndrome

      AR

      96.93%

      177 of 179

      TRIM32

      Bardet-Biedl Syndrome, Limb-Girdle Muscular Dystrophy, TRIM 32-related Limb-Girdle Muscular Dystrophy

      AR

      100%

      17 of 17

      TTC21B

      Asphyxiating Thoracic Dystrophy, Jeune Syndrome, Nephronophthisis, Joubert Syndrome

      AD,AR

      100%

      67 of 67

      TTC8

      Bardet-Biedl Syndrome, Retinitis Pigmentosa

      AR

      99.33%

      28 of 28

      TUBB8

      Oocyte Maturation Defect

      AD,AR

      99.81%

      47 of 47

      USP9Y

      Partial Chromosome Y Deletion, Y-linked Nonobstructive Spermatogenic Failure

      Y,G

      44.98%

      NA of NA

      WDPCP

      Bardet-Biedl Syndrome, Congenital Heart Defects, Hamartomas Of Tongue And Polysyndactyly, Meckel Syndrome

      AR

      99.30%

      8 of 8

      WDR11

      Hypogonadotropic Hypogonadism With Or Without Anosmia, Hypogonadotropic Hypogonadism Without Anosmia, Kallmann Syndrome, Normosmic Congenital Hypogonadotropic Hypogonadism, Pituitary Stalk Interruption Syndrome

      AD,AR

      100%

      19 of 19

      WNT4

      46XX Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs, Mullerian Aplasia And Hyperandrogenism, Serkal Syndrome

      AD,AR

      100%

      8 of 8

      ZMYND15

      Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation, Spermatogenic Failure

      AR

      99.87%

      1 of 1

      ZP1

      Oocyte Maturation Defect

      AR

      100%

      17 of 17

      ZPBP

      Spermatogenic Failure

       

      99.98%

      4 of 4

      * Inheritance: AD: Autosomal Dominant; AR: Autosomal Recessive; X: X linked; XLR: X linked Recessive; Mi: Mitochondrial; Mu: Multifactorial; G: Gonosomal Inheritance; D: Digenic Inheritance 

      ** HGMD: Number of clinically relevant mutations according to HGMD

      Methodology

      References

      See scientific referrals

      Timothy Jette, N., & Glass, R. (1972). Prognostic Value of the Postcoital Test. Fertility And Sterility, 23(1), 29-32. doi: 10.1016/s0015-0282(16)38705-2 

      Zorrilla, M., & Yatsenko, A. N. (2013). The Genetics of Infertility: Current Status of the Field. Current genetic medicine reports, 1(4), 10.1007/s40142-013-0027-1. https://doi.org/10.1007/s40142-013-0027-1 

      Venkatesh, T., Suresh, P. S., & Tsutsumi, R. (2014). New insights into the genetic basis of infertility. The application of clinical genetics, 7, 235–243. https://doi.org/10.2147/TACG.S40809 

      Cariati, F., D’Argenio, V., & Tomaiuolo, R. (2019). The evolving role of genetic tests in reproductive medicine. Journal Of Translational Medicine, 17(1). doi: 10.1186/s12967-019-2019-8 

      Krausz, C., Riera-Escamilla, A. Genetics of male infertility. Nat Rev Urol 15, 369–384 (2018). https://doi.org/10.1038/s41585-018-0003-3 

      Layman, L. (2002). Human gene mutations causing infertility. Journal Of Medical Genetics, 39(3), 153-161. doi: 10.1136/jmg.39.3.153 

      Patel, B., Parets, S., Akana, M., Kellogg, G., Jansen, M., Chang, C., Cai, Y., Fox, R., Niknazar, M., Shraga, R., Hunter, C., Pollock, A., Wisotzkey, R., Jaremko, M., Bisignano, A., & Puig, O. (2018). Comprehensive genetic testing for female and male infertility using next-generation sequencing. Journal of assisted reproduction and genetics, 35(8), 1489–1496. https://doi.org/10.1007/s10815-018-1204-7 

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