Y Chromosome Microdeletion 16 Mutations Test
Test Name: Y Chromosome Microdeletion 16 Mutations Test
Components: EDTA Vacutainer (2ml)
Price: 1500.0 AED
Sample Condition: Peripheral blood
Report Delivery: 4-5 days
Method: Multiplex End Point PCR
Test Type: Genetics
Doctor: General Physician
Test Department: Genetics
Pre Test Information
Y Chromosome Microdeletion (16 Mutations) can be done with a doctor’s prescription. Prescription is not applicable for surgery and pregnancy cases or people planning to travel abroad.
Test Details
Y chromosome microdeletion refers to the loss of a small portion of genetic material on the Y chromosome. The Y chromosome is responsible for determining male sex characteristics and fertility.
There are several different regions on the Y chromosome that can be affected by microdeletions, and each region is associated with specific genes. One of the most well-known regions is the AZF (azoospermia factor) region, which is divided into three sub-regions: AZFa, AZFb, and AZFc. These sub-regions contain genes that are essential for normal sperm production.
There are 16 known mutations or microdeletions associated with Y chromosome microdeletion, each affecting a specific region on the Y chromosome. These include:
- AZFa: This microdeletion affects the genes in the AZFa region and is associated with severe spermatogenic failure, leading to azoospermia (absence of sperm in the ejaculate).
- AZFb: This microdeletion affects the genes in the AZFb region and is also associated with severe spermatogenic failure and azoospermia.
- AZFc: This microdeletion affects the genes in the AZFc region and is the most common type of Y chromosome microdeletion. It is associated with a range of spermatogenic defects, including oligozoospermia (low sperm count) and azoospermia.
- AZFd: This microdeletion affects a small portion of the AZFc region and is less common than other AZF deletions. Its clinical significance is not fully understood.
- Other AZF deletions: There are several other rare microdeletions that affect specific genes within the AZF region, such as AZFb+c and AZFb+d.
- Other non-AZF deletions: Some microdeletions affect genes outside the AZF region, such as DAZ (deleted in azoospermia) and RBMY (RNA-binding motif on the Y chromosome). These deletions can also lead to spermatogenic defects and male infertility.
Y chromosome microdeletions are typically diagnosed through genetic testing, such as polymerase chain reaction (PCR) or fluorescent in situ hybridization (FISH) techniques. Understanding the specific type and location of the microdeletion can help determine the prognosis and potential treatment options for individuals affected by these mutations.
Test Name | Y Chromosome Microdeletion 16 Mutations Test |
---|---|
Components | EDTA Vacutainer (2ml) |
Price | 1500.0 AED |
Sample Condition | Peripheral blood |
Report Delivery | 4-5 days |
Method | Multiplex End Point PCR |
Test type | Genetics |
Doctor | General Physician |
Test Department: | |
Pre Test Information | Y Chromosome Microdeletion (16 Mutations) can be done with a Doctors prescription. Prescription is not applicable for surgery and pregnancy cases or people planing to travel abroad. |
Test Details |
Y chromosome microdeletion refers to the loss of a small portion of genetic material on the Y chromosome. The Y chromosome is responsible for determining male sex characteristics and fertility. There are several different regions on the Y chromosome that can be affected by microdeletions, and each region is associated with specific genes. One of the most well-known regions is the AZF (azoospermia factor) region, which is divided into three sub-regions: AZFa, AZFb, and AZFc. These sub-regions contain genes that are essential for normal sperm production. There are 16 known mutations or microdeletions associated with Y chromosome microdeletion, each affecting a specific region on the Y chromosome. These include: 1. AZFa: This microdeletion affects the genes in the AZFa region and is associated with severe spermatogenic failure, leading to azoospermia (absence of sperm in the ejaculate). 2. AZFb: This microdeletion affects the genes in the AZFb region and is also associated with severe spermatogenic failure and azoospermia. 3. AZFc: This microdeletion affects the genes in the AZFc region and is the most common type of Y chromosome microdeletion. It is associated with a range of spermatogenic defects, including oligozoospermia (low sperm count) and azoospermia. 4. AZFd: This microdeletion affects a small portion of the AZFc region and is less common than other AZF deletions. Its clinical significance is not fully understood. 5. Other AZF deletions: There are several other rare microdeletions that affect specific genes within the AZF region, such as AZFb+c and AZFb+d. 6. Other non-AZF deletions: Some microdeletions affect genes outside the AZF region, such as DAZ (deleted in azoospermia) and RBMY (RNA-binding motif on the Y chromosome). These deletions can also lead to spermatogenic defects and male infertility. Y chromosome microdeletions are typically diagnosed through genetic testing, such as polymerase chain reaction (PCR) or fluorescent in situ hybridization (FISH) techniques. Understanding the specific type and location of the microdeletion can help determine the prognosis and potential treatment options for individuals affected by these mutations. |