Short Description

NGS genetic DNA test detecets for variant and mutation detection in HSD17B10 gene for Mental retardation, X-linked type 17

PreTest Information

Clinical History of Patient who is going for HSD17B10 Gene Mental retardation, X-linked type 17 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with HSD17B10 Gene Mental retardation, X-linked type 17

Detail Description

HSD17B10 Gene and Mental Retardation: A Comprehensive Guide

Mental retardation, also known as intellectual disability, is a condition characterized by significant limitations in intellectual functioning and adaptive behavior. It affects approximately 1-3% of the population worldwide, and there are many different genetic and environmental factors that can contribute to its development.

One such genetic factor is the HSD17B10 gene, which is located on the X chromosome and is involved in the production of an enzyme that plays a critical role in the metabolism of certain hormones and neurotransmitters. Mutations in this gene have been linked to X-linked type 17 mental retardation, a rare genetic disorder that primarily affects males.

Symptoms of X-linked type 17 mental retardation

The symptoms of X-linked type 17 mental retardation can vary widely depending on the severity of the mutation and other genetic and environmental factors. Some of the most common symptoms include:

• Developmental delays in speech, language, and motor skills
• Behavioral problems, such as hyperactivity and aggression
• Seizures
• Abnormal muscle tone and movement
• Facial abnormalities, such as a small head size and a flat nasal bridge

It is important to note that not all individuals with a mutation in the HSD17B10 gene will exhibit these symptoms, and some individuals may only experience mild or moderate intellectual disability.

Diagnosis of X-linked type 17 mental retardation

Diagnosis of X-linked type 17 mental retardation typically involves a combination of clinical evaluation, genetic testing, and imaging studies. During the clinical evaluation, a healthcare provider will assess the individual's developmental history, behavior, and physical characteristics. Genetic testing, such as Next Generation Sequencing (NGS), can be used to identify mutations in the HSD17B10 gene.

NGS Genetic DNA Test cost in India

The cost of NGS genetic DNA testing for X-linked type 17 mental retardation in India can vary depending on the provider and the specific testing method used. However, on average, the cost of this test is approximately INR 20,000.

Conclusion

X-linked type 17 mental retardation is a rare genetic disorder that can have a significant impact on an individual's intellectual and behavioral development. If you suspect that you or a loved one may have this condition, it is important to speak with a healthcare provider to receive an accurate diagnosis and appropriate treatment. NGS genetic DNA testing can provide valuable information about the underlying genetic cause of the condition and help guide treatment decisions.

At DNA Labs India, we offer a wide range of genetic testing services, including NGS genetic DNA testing for X-linked type 17 mental retardation. Our team of experienced professionals is dedicated to providing accurate and reliable testing results to help improve the lives of individuals and families affected by genetic disorders.

Contact us today to learn more about our genetic testing services and how we can help you.

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 HSD17B10 Gene Mental retardation, X-linked type 17 NGS Genetic DNA Test