Short Description

NGS genetic DNA test detecets for variant and mutation detection in EFTUD2 gene for Mandibulofacial dysostosis with microcephaly

PreTest Information

Clinical History of Patient who is going for EFTUD2 Gene Mandibulofacial dysostosis with microcephaly NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with EFTUD2 Gene Mandibulofacial dysostosis with microcephaly NGS Genetic DNA Test gene EFTUD2

Detail Description

EFTUD2 Gene Mandibulofacial Dysostosis with Microcephaly NGS Genetic DNA Test Cost INR: 20000 Symptoms Diagnosis

Mandibulofacial dysostosis with microcephaly is a rare genetic disorder that affects the development of the face, skull, and brain. It is caused by mutations in the EFTUD2 gene, which provides instructions for making a protein that is essential for the normal development of these structures. This disorder can be diagnosed using a Next Generation Sequencing (NGS) Genetic DNA Test, which costs INR 20,000 in India.

Symptoms of Mandibulofacial Dysostosis with Microcephaly

The symptoms of mandibulofacial dysostosis with microcephaly vary widely from person to person, even among members of the same family. Some of the most common symptoms include:

• Abnormal facial features, such as a small jaw and chin, widely spaced eyes, and a narrow forehead
• Microcephaly, or an abnormally small head size
• Hearing loss and other ear abnormalities
• Speech and language delays
• Developmental delays
• Intellectual disability

Diagnosis of Mandibulofacial Dysostosis with Microcephaly

Mandibulofacial dysostosis with microcephaly is typically diagnosed based on a combination of clinical features and genetic testing. A physical examination can reveal the characteristic facial features and head size abnormalities associated with the disorder. Genetic testing, including NGS Genetic DNA Test, can confirm the diagnosis by identifying mutations in the EFTUD2 gene. This test is now available in India and costs INR 20,000.

NGS Genetic DNA Test for Mandibulofacial Dysostosis with Microcephaly

NGS Genetic DNA Test is a powerful tool for detecting genetic mutations associated with mandibulofacial dysostosis with microcephaly. This test uses next-generation sequencing technology to analyze the DNA of an individual and identify mutations in the EFTUD2 gene. This test is highly accurate and can detect even small changes in the DNA sequence that can cause the disorder.

Cost of NGS Genetic DNA Test in India

The cost of NGS Genetic DNA Test for mandibulofacial dysostosis with microcephaly in India is around INR 20,000. This cost may vary depending on the laboratory and location where the test is performed. It is important to choose a reputable laboratory that uses the latest technology and has experienced professionals to perform the test.

Conclusion

Mandibulofacial dysostosis with microcephaly is a rare genetic disorder that affects the development of the face, skull, and brain. It can be diagnosed using a NGS Genetic DNA Test, which is now available in India at a cost of INR 20,000. Early diagnosis is important for appropriate management and treatment of the disorder.