About Gene-Checker (Infertility)
Overview of the test

Infertility is thought to affect approximately one in six couples worldwide, with male infertility accounting for approximately 35% and female infertility for approximately 45% (the remaining cases are a combination of both).

Furthermore, biochemical and instrumental tests such as hormone tests, ultrasound tests, and semen tests can identify up to 65% of infertility cases, and it is believed that 10-15% of men and women have genetic changes related to infertility.
 

Gene-Checker(Infertility) is a genetic test for infertility, screening for genetic mutations in individuals who have difficulty conceiving. Gene-Checker(Infertility)provides an accurate prognostic assessment and helps identify treatment options by identifying genetic mutations associated with infertility and sex chromosome disorders.

Gene-Checker (infertility)is applicable to those who have previously experienced a post-term pregnancy, women with irregular or absent menstrual periods, men with low sperm count or irregular sperm shape or movement, those suspected to have a disorder of sexual development, those planning to undergo assisted reproductive technology (ART) treatment, sperm or egg donation candidates, and those with a family history of infertility. Gene-Checker (Infertility) is also applicable to couples or individuals who have had two or more miscarriages and to couples or individuals with a family history of neonatal alloimmune thrombocytopenia (NAIT).

Target audience

・Those who have experienced a post-term pregnancy in the past

・Women with irregular or amenorrhea

・Those suspected of having a disorder of sexual development

・Those planning to undergo assisted reproductive technology (ART) treatment

・Candidates for sperm or egg donation

・Those with a family history of infertility

・Those with two or more miscarriages

・Those with a family history of neonatal alloimmune thrombocytopenia (NAIT)

Notes

Testable diseases and corresponding genes

Female Infertility Panel

This is a list of various genes related to infertility. These Genes are primarily related to different factors that affect reproductive function, each with a specific role. Below we provide a brief overview of each gene: p>### 1. **AIRE**
The AIRE gene is involved in autoimmune regulation, and autoimmune diseases may affect infertility.

### 2. **EIF2B3**
The EIF2B3 gene is involved in protein synthesis, causing metabolic disorders and changes in hormone balance, which contribute to infertility.

### 3. **GALT**
GALT gene is related to galactosemia and can cause infertility. This is because abnormal sugar metabolism affects reproductive function.

### 4. **IRS2**
IRS2 is a gene involved in insulin signaling and is associated with insulin resistance and polycystic ovary syndrome (PCOS).

### 5. **PROKR2**
PROKR2 is involved in the development of GnRH (gonadotropin releasing hormone) nerves, and abnormalities in this function can cause hypogonadism. .

### 6. **ANOS1**
ANOS1 is associated with Kaliman syndrome, a condition characterized by anosmia and hypogonadism, which can lead to infertility.

### 8. **GDF9**
GDF9 is involved in the development of follicles and can cause ovarian failure and infertility.

### 9. **KISS1**
The KISS1 gene is important for the onset of puberty, and if abnormal, it affects sexual maturation and fertility.

### 10. **PSMC3IP**
PSMC3IP is involved in meiosis and the maturation of sperm and eggs, and its abnormality causes infertility.

### 11. **BMP15* *
BMP15 is important for ovarian development, and its mutations can lead to ovarian failure.

### 12. **FGF8**
FGF8 is involved in the development of GnRH. and is associated with hypogonadism and reduced fertility.

### 13. **GNAS**
GNAS is involved in hormone signaling, and its abnormalities are involved in many endocrine disorders and infertility.

### 14. **KISS1R**
KISS1R, like KISS1, plays an important role in sexual maturation and reproductive function.

### 15. **SEMA3A**
SEMA3A is involved in the development of the nervous system and blood vessels, and abnormalities can be associated with infertility and other developmental problems.

### 16. **CAPN10**
CAPN10 is involved in glucose metabolism and is associated with metabolic disorders and infertility, such as polycystic ovary syndrome (PCOS). is involved in the development of the reproductive organs and affects hypogonadism and infertility.

### 18. **GNRH1**
GNRH1 is a hormone that controls gonadotropic hormones, and abnormalities in this hormone lead to hypogonadism.

## # 19. **LHB**
LHB is the gene that codes for luteinizing hormone (LH), and abnormalities in LHB are associated with sex hormone imbalance and infertility.

### 20. **SPRY4**
SPRY4 plays an important role in reproductive development and abnormalities may cause infertility.

### 21. **CHD7* *
CHD7 is associated with Karger syndrome (olfactory and gonadal dysfunction) and may cause infertility.

### 22. **FGFR1**
FGFR1 is It is associated with Kaliman syndrome, which causes hypogonadism and infertility.. **GNRHR**
GNRHR codes for the GnRH receptor, and abnormalities in this gene lead to hypogonadism.

### 24. **LHCGR**
LHCGR is related to luteinizing hormone, and abnormalities in this gene lead to sex hormone imbalance and infertility.

### 25. **STAG3**
STAG3 is involved in chromosome separation, and abnormalities in this gene can lead to ovarian failure and infertility.

### 26. **CYP11A1**
CYP11A1 is involved in the synthesis of steroid hormones, and abnormalities in this gene lead to hormonal imbalance and infertility.

### 27. **FIGLA**
FIGLA is involved in the development of follicles, and abnormalities in this gene can lead to ovarian failure.

### 28. **HESX1**
HESX1 is involved in pituitary development and causes hormonal deficiency and hypogonadism.

### 29. **NOBOX**
NOBOX is important for ovarian development and abnormalities are involved in premature ovarian decline and infertility.

### 30. **TAC3**
TAC3 is involved in the regulation of GnRH and abnormalities cause hypogonadism.

### 31. **CYP17A1**
CYP17A1 is involved in the synthesis of steroid hormones and abnormalities lead to hormonal deficiency and infertility.

### 32. **FLRT3**
FLRT3 is involved in cell-cell interactions and abnormalities can affect development and reproductive function.

### 33. **HS6ST1**
HS6ST1 is associated with Kaliman syndrome and may lead to infertility.

### 34. **NR5A1**
NR5A1 is involved in gonadal function and hormone production, and abnormalities in NR5A1 lead to infertility.

### 35. **TACR3**
TACR3 is involved in the regulation of sex hormones and is associated with hypogonadism.

### 36. **CYP19A1**
CYP19A1 is involved in estrogen synthesis, and abnormalities in CYP19A1 lead to hormone deficiency and infertility.

### 37. **FMR1**
FMR1 is associated with fragile X syndrome and may lead to infertility and early menopause.

### 38. **IL17RD**
IL17RD is associated with Kaliman syndrome and can cause hypogonadism.

### 39. **NSMF**
NSMF is also associated with Kaliman syndrome and can affect infertility.

### 40. **THADA**
THADA is associated with metabolic disorders and polycystic ovarian syndrome (PCOS).

### 41. **DENND1A**
DENND1A is associated with PCOS and can affect hormone balance and infertility.

### 42. **FOXL2**
FOXL2 is deeply involved in ovarian function, and abnormalities in this function can lead to premature ovarian failure and infertility.

### 43. **INS**
INS is involved in insulin synthesis, and metabolic disorders and hormone imbalances can affect infertility.

### 44. **POF1B**
POF1B is associated with premature ovarian failure, which can lead to premature menopause and infertility.

### 45. **WDR11**
WDR11 is associated with Kaliman syndrome and can lead to hypogonadism.

### 46. **DUSP6**
DUSP6 is involved in hormone signaling, which can affect reproductive function when abnormal.

### 47. **FSHB**
FSHB codes for follicle-stimulating hormone (FSH), which can lead to ovarian failure.

### 48. **INSR**
INSR codes for the insulin receptor, which is associated with insulin resistance and PCOS.

### 49. **POLG**
POLG is involved in mitochondrial function and abnormalities in POLG can affect ovarian function.

### 50. **WT1**
WT1 is important for gonadal and renal development and abnormalities in WT1 can lead to infertility.

### 51. **EIF2B2**
EIF2B2 is involved in protein synthesis and abnormalities in WT1 can affect metabolism and reproductive function.

### 52. **FSHR**
FSHR encodes the follicle-stimulating hormone receptor and is important for ovarian development and function.

### 53. **IRS1**
IRS1 is involved in insulin signaling and is associated with polycystic ovarian syndrome (PCOS).

### 54. **PROK2**
PROK2 is related to reproductive function and sense of smell, and abnormalities in it can cause Kaliman syndrome and infertility.

### 55. **ZP1**
ZP1 is a protein that makes up the zona pellucida that surrounds the egg, and abnormalities in it are related to fertilization disorders and infertility.

Abnormalities in the genes included in this list may affect infertility through different mechanisms.