Short Description

NGS genetic DNA test detecets for variant and mutation detection in DYRK1A gene for Mental retardation, autosomal dominant type 7

PreTest Information

Clinical History of Patient who is going for DYRK1A Gene Mental retardation, autosomal dominant type 7 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with DYRK1A Gene Mental retardation, autosomal dominant type 7

Detail Description

DYRK1A Gene and Mental Retardation: Understanding Autosomal Dominant Type 7

Genetic testing has revolutionized healthcare in recent years. It has helped us understand the underlying causes of various diseases and conditions, paving the way for more effective treatment and management strategies. DNA Labs India is a leading provider of NGS Genetic DNA testing services in the country, offering comprehensive testing solutions for a range of genetic disorders, including mental retardation caused by the DYRK1A gene.

What is DYRK1A Gene?

The DYRK1A gene is located on chromosome 21 and encodes a protein that plays a critical role in brain development. It regulates the growth and differentiation of neurons, which are the building blocks of the nervous system. Mutations in this gene have been linked to various neurological disorders, including intellectual disability or mental retardation, autism spectrum disorder, and Down syndrome.

What is Autosomal Dominant Type 7?

Autosomal dominant type 7 is a rare genetic disorder caused by mutations in the DYRK1A gene. It is characterized by intellectual disability or mental retardation, delayed speech and language development, and distinct facial features, including a small head size, a flat midface, and prominent forehead. Other symptoms may include seizures, hypotonia or low muscle tone, and behavioral problems such as hyperactivity and impulsivity.

How is Autosomal Dominant Type 7 Diagnosed?

The diagnosis of autosomal dominant type 7 is based on clinical features and genetic testing. A genetic counselor or healthcare provider will conduct a comprehensive medical evaluation of the patient to assess their symptoms and medical history. They may recommend genetic testing, such as NGS Genetic DNA testing, to confirm the diagnosis and identify the specific genetic mutation responsible for the disorder.

NGS Genetic DNA Test Cost:

The cost of NGS Genetic DNA testing for autosomal dominant type 7 at DNA Labs India is INR 20,000. The test uses next-generation sequencing technology to analyze the patient's DNA and identify any mutations in the DYRK1A gene that may be responsible for the disorder. The results of the test can help healthcare providers develop personalized treatment and management plans for the patient based on their specific genetic profile.

Conclusion:

DNA Labs India is committed to providing high-quality, affordable genetic testing services to patients and healthcare providers across the country. Our NGS Genetic DNA testing for autosomal dominant type 7 can help diagnose and manage this rare genetic disorder, allowing patients to receive personalized care and support. Contact us today to learn more about our genetic testing services and how we can help you.