Short Description

NGS genetic DNA test detecets for variant and mutation detection in ASPM gene for Microcephaly, autosomal recessive type 5

PreTest Information

Clinical History of Patient who is going for ASPM Gene Microcephaly, autosomal recessive type 5 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ASPM Gene Microcephaly, autosomal recessive type 5 NGS Genetic DNA Test gene ASPM

Detail Description

ASPM Gene Microcephaly: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost

ASPM Gene Microcephaly, autosomal recessive type 5, is a rare genetic disorder that affects brain development. It is caused by mutations in the ASPM gene, which provides instructions for making a protein that is essential for the growth and division of brain cells during development.

Symptoms of ASPM Gene Microcephaly

The primary symptom of ASPM Gene Microcephaly is microcephaly, a condition in which the head is smaller than normal. Other symptoms may include:

• Intellectual disability
• Delayed speech and language development
• Seizures
• Abnormal muscle tone
• Abnormalities of the brain

Diagnosis of ASPM Gene Microcephaly

ASPM Gene Microcephaly is diagnosed through genetic testing, which can identify mutations in the ASPM gene. The most common type of genetic testing used for ASPM Gene Microcephaly is NGS (Next-Generation Sequencing), which can sequence the entire ASPM gene and identify any mutations present.

NGS Genetic DNA Test Cost

The cost of an NGS Genetic DNA Test for ASPM Gene Microcephaly in India is around INR 20,000. This cost may vary depending on the laboratory and the specific tests performed.

Conclusion

ASPM Gene Microcephaly is a rare genetic disorder that affects brain development. It is diagnosed through genetic testing, with NGS being the most common type of testing used. The cost of an NGS Genetic DNA Test for ASPM Gene Microcephaly in India is around INR 20,000. If you or a loved one is experiencing symptoms of ASPM Gene Microcephaly, it is important to speak with a healthcare provider and consider genetic testing to receive an accurate diagnosis.

At DNA Labs India, we offer NGS Genetic DNA Testing for a range of genetic disorders, including ASPM Gene Microcephaly. Our laboratory uses state-of-the-art technology and experienced geneticists to provide accurate and reliable results. Contact us today to learn more about our services and how we can help you.