Short Description

NGS genetic DNA test detecets for variant and mutation detection in RTTN gene for Microcephaly, short stature, and polymicrogyria with seizures

PreTest Information

Clinical History of Patient who is going for RTTN Gene Microcephaly, short stature, and polymicrogyria with seizures NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with RTTN Gene Microcephaly, short stature, and polymicrogyria with seizures NGS Genetic DNA Test gene RTTN

Detail Description

RTTN Gene Microcephaly, Short Stature, and Polymicrogyria with Seizures NGS Genetic DNA Test

RTTN gene is responsible for the development of the human brain. It plays a vital role in the process of neurogenesis and neuronal migration. Mutations in this gene can lead to various neurological disorders, including microcephaly, short stature, and polymicrogyria with seizures. These disorders can cause significant developmental delays and affect a person's quality of life.

What is Microcephaly?

Microcephaly is a condition where a person's head is smaller than normal. This is due to abnormal brain development during pregnancy or after birth. Microcephaly can lead to intellectual disability, developmental delays, and seizures.

What is Short Stature?

Short stature is a condition where a person's height is significantly lower than average for their age and gender. It can be caused by genetic or environmental factors. Short stature can lead to social and psychological problems, including low self-esteem and depression.

What is Polymicrogyria with Seizures?

Polymicrogyria is a rare condition where the brain develops too many folds or wrinkles. This can cause seizures, developmental delays, and intellectual disability. Polymicrogyria with seizures is a severe form of the disorder that can lead to life-threatening complications.

NGS Genetic DNA Test for RTTN Gene Microcephaly, Short Stature, and Polymicrogyria with Seizures

NGS Genetic DNA Test is a next-generation sequencing technology that can detect mutations in the RTTN gene. The test can help diagnose microcephaly, short stature, and polymicrogyria with seizures. The test is non-invasive and requires a blood or saliva sample.

Cost of NGS Genetic DNA Test

The cost of NGS Genetic DNA Test for RTTN Gene Microcephaly, Short Stature, and Polymicrogyria with Seizures is INR 20,000 in India. The test is available at DNA Labs India, a leading genetic testing company in the country.

Symptoms of RTTN Gene Microcephaly, Short Stature, and Polymicrogyria with Seizures

The symptoms of RTTN Gene Microcephaly, Short Stature, and Polymicrogyria with Seizures vary depending on the severity of the disorder. Some common symptoms include:

• Small head size
• Delayed developmental milestones
• Intellectual disability
• Seizures
• Abnormal brain development
• Short stature
• Speech and language delays

Diagnosis of RTTN Gene Microcephaly, Short Stature, and Polymicrogyria with Seizures

Diagnosis of RTTN Gene Microcephaly, Short Stature, and Polymicrogyria with Seizures involves a series of tests, including:

• Physical examination
• Neurological examination
• Brain imaging tests, including MRI and CT scans
• Genetic testing, including NGS Genetic DNA Test

Conclusion

RTTN Gene Microcephaly, Short Stature, and Polymicrogyria with Seizures are severe neurological disorders that can lead to developmental delays, intellectual disability, and seizures. NGS Genetic DNA Test is a non-invasive and reliable method of diagnosing these disorders. DNA Labs India offers the test at an affordable cost of INR 20,000. Early diagnosis and treatment can improve the quality of life of affected individuals.