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PIK3R1 Gene Agammaglobulinemia type 7, autosomal recessive NGS Genetic DNA Test Cost 20000 Rs
PIK3R1 Gene Agammaglobulinemia type 7, autosomal recessive NGS Genetic DNA Test Details
PIK3R1 Gene Agammaglobulinemia Type 7: Symptoms, Diagnosis and NGS Genetic DNA Test Cost
DNA Labs India offers comprehensive genetic testing services, including Next Generation Sequencing (NGS) for various genetic disorders. One of the genetic disorders that can be detected through NGS is Agammaglobulinemia Type 7, which is caused by mutations in the PIK3R1 gene.
What is Agammaglobulinemia Type 7?
Agammaglobulinemia Type 7 is a rare genetic disorder that affects the immune system. It is an autosomal recessive disorder, which means that a person needs to inherit two copies of the mutated gene (one from each parent) to develop the disorder.
Agammaglobulinemia Type 7 is caused by mutations in the PIK3R1 gene, which provides instructions for making a protein that is involved in the signaling pathway of B cells. B cells are a type of white blood cell that produces antibodies to fight off infections. In people with Agammaglobulinemia Type 7, B cells are unable to mature and produce enough antibodies, which makes them more susceptible to infections.
Symptoms of Agammaglobulinemia Type 7
The symptoms of Agammaglobulinemia Type 7 can vary from person to person, but they generally include:
- Frequent infections, such as ear infections, sinus infections, and pneumonia
- Chronic diarrhea
- Failure to thrive
- Recurrent skin infections
- Enlarged lymph nodes
These symptoms typically appear in the first year of life, but they can also develop later in childhood or adulthood.
Diagnosis of Agammaglobulinemia Type 7
Agammaglobulinemia Type 7 can be diagnosed through genetic testing, specifically through Next Generation Sequencing (NGS). NGS is a powerful technology that can sequence multiple genes at once, allowing for a faster and more comprehensive diagnosis.
The genetic test for Agammaglobulinemia Type 7 analyzes the PIK3R1 gene for mutations. If two mutations are found, then a diagnosis of Agammaglobulinemia Type 7 can be made.
NGS Genetic DNA Test Cost
The cost of the NGS genetic DNA test for Agammaglobulinemia Type 7 at DNA Labs India is INR 20,000. This includes the cost of the genetic test and the genetic counseling session with a certified genetic counselor.
Genetic counseling is an important part of the genetic testing process, as it helps individuals and families understand the results of the test and the implications for their health and the health of their family members.
Conclusion
Agammaglobulinemia Type 7 is a rare genetic disorder that can be diagnosed through genetic testing, specifically through Next Generation Sequencing (NGS). DNA Labs India offers NGS genetic testing for Agammaglobulinemia Type 7 at an affordable cost of INR 20,000, which includes genetic counseling with a certified genetic counselor. If you or someone you know is experiencing symptoms of Agammaglobulinemia Type 7, it is important to seek medical advice and consider genetic testing to get an accurate diagnosis and appropriate treatment.
Before getting tested ask for Raw Data, FASTQ, and VCF files along with clinical test report from DNA Testing Lab. DNA Labs India is the Only lab that is transparent and will share Raw Data, FASTQ, and VCF files along with the conclusive clinical report for PIK3R1 Gene Agammaglobulinemia type 7, autosomal recessive NGS Genetic DNA Test