※This product is for one person.

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

・Men with low sperm count or irregular sperm shape or movement

・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 a family history of neonatal alloimmune thrombocytopenia (NAIT)

Caution

The assay cannot identify all mutations associated with the disease tested for. While the assay is highly accurate, false positive or false negative results may occur. This may be due to technical and/or biological limitations, including, for example, mislabeling of samples, inaccurate reporting of clinical information, rare technical errors, or other occurrences. Genetic changes not detected by the Gene-Checker (Infertility) may also be associated with the disease. Although genetic testing is an important part of the diagnostic process, it does not always provide a clear answer. In some cases, genetic mutations may be present but not identified by the test. This is due to limitations in current medical knowledge and testing techniques. Clinical correlation with other clinical data and tests is recommended. Results should always be considered in the context of other clinical criteria. It is the referring physician's responsibility to provide pre- and post-test counseling and advice regarding the need for additional genetic testing, if other diagnostic tests may still be required.

Diseases that can be tested and corresponding genes
Male infertility panel

This list shows the genes related to male infertility, each of which has a role in male reproductive function. These genes affect various reproductive processes, including spermatogenesis, hormone balance, and gonadal development. Below, we will discuss each of these genes in more detail. >

### 1. **ANOS1**
ANOS1 is associated with Kaliman syndrome, which is characterized by anosmia and hypogonadism. Abnormalities in this hormone cause impaired secretion of GnRH (gonadotropin-releasing hormone), resulting in hypogonadism and male infertility. It regulates the MAPK pathway and is involved in cell proliferation and development. During the process of spermatogenesis, abnormalities in this gene can affect male infertility. **FSHR**
FSHR encodes the follicle-stimulating hormone (FSH) receptor and is important for spermatogenesis. Mutations in this gene affect FSH signaling, leading to spermatogenic failure and male infertility.

### 4. **LHB**
LHB codes for luteinizing hormone (LH) and is involved in the production of testosterone. Hormonal deficiency can lead to an imbalance of sex hormones, which can negatively affect spermatogenesis.

### 5. **SPRY4**
SPRY4 is involved in growth factor signaling and is important in regulating spermatogenesis. Abnormalities can affect reproductive function, It can cause male infertility.

### 6. **AR**
AR (androgen receptor) codes for the receptor that mediates the action of testosterone. This When the receptors are not functioning properly, the effects of testosterone are weakened, which can lead to problems with spermatogenesis. It is involved in the migration of the gonads and is important for normal development of gonad function. Abnormalities in this gene may be related to male infertility. GNRH1 encodes gonadotropin-releasing hormone (GnRH), a hormone that controls testicular function. Mutations in this gene lead to hormonal imbalance, adversely affecting spermatogenesis.

### 9. **LHCGR**
LHCGR encodes the luteinizing hormone and human chorionic gonadotropin (hCG) receptor, which promotes testosterone production. Abnormalities in the body can interfere with the production of male hormones and cause male infertility.

### 10. **SRD5A1**
SRD5A1 converts testosterone into a more active form. It codes for an enzyme that converts testosterone into dihydrotestosterone (DHT). If this conversion does not occur normally, it can adversely affect spermatogenesis and cause infertility. # 11. **AURKC**
AURKC codes for a kinase that controls chromosome segregation and plays an important role in the process of spermatogenesis. Mutations in AURKC lead to the formation of abnormal sperm and infertility. It may cause.

### 12. **FGF8**
FGF8 is a growth factor that is involved in reproductive development and spermatogenesis. Abnormalities in this gene can cause hypogonadism and infertility.

### 13. **GNRHR**
GNRHR codes for the GnRH receptor, which is involved in the secretion of gonadotropic hormones. It regulates the secretion of. Abnormalities in this receptor can affect hormone balance and cause spermatogenesis disorders.

### 14. **NR5A1**
NR5A1 SRY* encodes a transcription factor that is important for the development of the testes and adrenal glands. Abnormalities in this gene cause hypogonadism and male infertility. *
SRY is a gene located on the Y chromosome that plays an important role in determining male sex. Abnormalities in this gene can cause problems in gonad development and can adversely affect spermatogenesis.< /p>

### 16. **CATSPER1**
CATSPER1 encodes a calcium channel required for sperm motility. Mutations in this gene lead to sperm motility disorders and infertility. Related:

### 17. **FGF17**
FGF17 is a type of growth factor that is involved in the development of the testes and adrenal glands. Abnormalities in this gene can affect reproductive function.

### 18. **HESX1**
HESX1 is involved in the development of the pituitary gland and affects the secretion of gonadotropic hormones. Abnormalities in this gene However, it can lead to male infertility.

### 19. **NSMF**
NSMF codes for a protein that regulates the migration of GnRH neurons. This can lead to hypogonadism and male infertility.

### 20. **TAC3**
TAC3 plays an important role in activating GnRH neurons. If there is an abnormality in this gene, it disrupts hormone balance and has a negative effect on sperm formation.

### 21. **CFTR**
CFTR is a gene associated with cystic fibrosis, which in men causes azoospermia due to the absence or blockage of the spermatic ducts.

### 22. **FGFR1**
FGFR1 encodes a growth factor receptor and is important for reproductive development. Mutations in this gene are responsible for Kaliman syndrome. HS6ST1 is involved in the synthesis of heparan sulfate and affects gonadal function. Abnormalities may cause male infertility.

### 24. **PRM1**
PRM1 encodes a protein required for sperm chromatin condensation. Abnormalities can cause damage to sperm DNA and reduce fertility.

### 25. **TACR3**
TACR3, like TAC3, encodes a receptor involved in regulating GnRH neurons. Abnormalities in this gene cause hypogonadism and It is associated with male infertility.

### 26. **CHD7**
CHD7 is associated with Kaliman syndrome and may lead to hypogonadism and infertility.

### 26. **CHD7**
CHD7 is associated with Kaliman syndrome and may lead to hypogonadism and infertility.

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### 27. **FLRT3**
FLRT3 encodes a protein involved in cell-cell interactions, and its abnormality may affect spermatogenesis.< /p>

### 28. **IL17RD**
IL17RD is associated with Kaliman syndrome and may be a risk factor for male infertility.

### 29 . **PROK2**
PROK2 is involved in the migration of GnRH neurons, and its abnormalities can cause hypogonadism and infertility.

### 30

. **USP26**
USP26 regulates the degradation of proteins related to spermatogenesis, and abnormalities in this gene cause spermatogenesis disorders. It may cause.

### 31. **DAZL**
DAZL is a gene that plays an important role in spermatogenesis, and abnormalities in this gene can cause azoospermia or oligozoospermia.

### 32. **FMR1**
FMR1 is associated with fragile X syndrome and may lead to early hypogonadism and infertility in men.

### 33. **KISS1**
KISS1 encodes a protein that regulates the secretion of gonadotropic hormones, and its abnormality may affect spermatogenesis.

### 34. **PROKR2**
PROKR2 is involved in gonadal function, and abnormalities in it can lead to hormonal imbalance and infertility.

### 35. **USP9Y**
USP9Y is a gene that is involved in spermatogenesis and is located on the Y chromosome, and abnormalities in this gene lead to spermatogenesis disorders.

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### 36. **DDX25**
DDX25 is involved in spermatogenesis, and its abnormality causes spermatogenesis disorder and male infertility.

### 37. **FSHB**
FSHB is a hormone that encodes follicle-stimulating hormone (FSH).It is important for spermatogenesis. Mutations in this gene interfere with the secretion of FSH and affect spermatogenesis.

### 38. **KISS1R**
KISS1R codes for the receptor for KISS1 and is important in regulating GnRH neurons. Abnormalities in this gene are associated with hypogonadism and male infertility.

### 39. **SEMA3A**
SEMA3A is involved in testicular development and spermatogenesis, and abnormalities in this gene can lead to spermatogenic disorders and male infertility.

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

These genes play various roles in male reproductive function, including spermatogenesis, hormone balance, and testicular development.