Short Description

NGS genetic DNA test detecets for variant and mutation detection in MKKS gene for McKusick-Kaufman syndrome

PreTest Information

Clinical History of Patient who is going for MKKS Gene McKusick-Kaufman syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with MKKS Gene McKusick-Kaufman syndrome NGS Genetic DNA Test gene MKKS

Detail Description

MKKS Gene: Understanding McKusick-Kaufman Syndrome and its Genetic DNA Test Cost

McKusick-Kaufman Syndrome (MKKS) is a rare genetic disorder that affects multiple organ systems, primarily the heart, hands, and reproductive system. It is caused by mutations in the MKKS gene, which is responsible for producing a protein that plays a crucial role in the development of these organ systems.

Individuals with MKKS may exhibit a range of symptoms, including heart defects, polydactyly (extra fingers or toes), and genital abnormalities. These symptoms can vary in severity and may not be present in all individuals with the disorder.

Diagnosis of MKKS

The diagnosis of MKKS is typically made through genetic testing. Next-generation sequencing (NGS) is a powerful tool that can be used to sequence the entire MKKS gene and identify any mutations that may be present.

NGS is a relatively new technology that has revolutionized the field of genetic testing. It allows for the rapid and accurate sequencing of large portions of the genome, making it an ideal tool for diagnosing genetic disorders like MKKS.

Cost of MKKS Genetic DNA Test

The cost of MKKS genetic DNA testing can vary depending on the specific test that is being performed and the laboratory that is conducting the test. However, the average cost of NGS-based genetic testing for MKKS is around INR 20,000.

While this may seem like a significant expense, it is important to remember that genetic testing can provide valuable information about a person's health and can help to guide medical treatment and management. In many cases, genetic testing can also provide important information for family members who may be at risk for the same condition.

Conclusion

McKusick-Kaufman Syndrome is a rare genetic disorder that can cause a range of symptoms affecting multiple organ systems. Genetic testing, specifically NGS-based testing, is the most effective way to diagnose MKKS and identify any mutations that may be present in the MKKS gene.

While the cost of genetic testing may seem high, it is important to remember that the information obtained from these tests can have a significant impact on a person's health and well-being. If you suspect that you or a loved one may have MKKS, it is important to speak with a healthcare provider to discuss the benefits and risks of genetic testing.

At DNA Labs India, we provide reliable and accurate genetic testing services for a wide range of genetic disorders, including MKKS. Contact us today to learn more about our services and how we can help you and your family.

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 MKKS Gene McKusick-Kaufman syndrome NGS Genetic DNA Test