Short Description

NGS genetic DNA test detecets for variant and mutation detection in GATA1 gene for Thrombocytopenia, X-linked

PreTest Information

Clinical History of Patient who is going for GATA1 Gene Thrombocytopenia, X-linked NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with GATA1 Gene Thrombocytopenia, X-linked NGS Genetic DNA Test gene GATA1

Detail Description

GATA1 Gene Thrombocytopenia, X-linked NGS Genetic DNA Test

GATA1 Gene Thrombocytopenia, X-linked (GATA1-XL) is a rare genetic disorder that affects blood platelets. It is caused by a mutation in the GATA1 gene, which is located on the X chromosome. This disorder mainly affects males, as they have only one X chromosome. Females who carry the mutation may not show any symptoms or may have mild symptoms.

Symptoms of GATA1-XL

The symptoms of GATA1-XL can vary from person to person. Some common symptoms include:

• Bruising easily
• Nosebleeds
• Heavy periods in females
• Excessive bleeding during surgery or dental procedures
• Blood in the urine or stool
• Low platelet count (thrombocytopenia)

Diagnosis of GATA1-XL

GATA1-XL can be diagnosed through a genetic test that looks for mutations in the GATA1 gene. This test can be performed using Next Generation Sequencing (NGS) technology, which is a high-throughput DNA sequencing method. NGS can analyze multiple genes simultaneously, which makes it a useful tool for genetic testing.

Cost of GATA1-XL NGS Genetic DNA Test

The cost of GATA1-XL NGS Genetic DNA Test in India is approximately INR 20,000. This cost may vary depending on the location and the laboratory where the test is performed.

Conclusion

GATA1-XL is a rare genetic disorder that affects blood platelets. It can cause symptoms such as easy bruising, nosebleeds, and low platelet count. The disorder can be diagnosed through a genetic test that looks for mutations in the GATA1 gene. NGS technology can be used to perform this test. The cost of GATA1-XL NGS Genetic DNA Test in India is approximately INR 20,000.

If you suspect that you or a family member may have GATA1-XL, it is important to consult with a genetic counselor or a healthcare provider who specializes in genetic disorders. They can provide you with more information about the disorder and help you decide if genetic testing is appropriate.

At DNA Labs India, we offer a wide range of genetic tests, including NGS-based tests for various genetic disorders. Our tests are performed by highly qualified and experienced professionals using state-of-the-art equipment and technology. Contact us today to learn more about our services.

Remember, early diagnosis and treatment can make a significant difference in the management of genetic disorders.

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 GATA1 Gene Thrombocytopenia, X-linked NGS Genetic DNA Test