Short Description

NGS genetic DNA test detecets for variant and mutation detection in MASP1 gene for 3MC syndrome type 1

PreTest Information

Clinical History of Patient who is going for MASP1 Gene 3MC syndrome type 1 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with MASP1 Gene 3MC syndrome type 1 NGS Genetic DNA Test gene MASP1

Detail Description

MASP1 Gene 3MC Syndrome Type 1 NGS Genetic DNA Test - Cost, Symptoms, Diagnosis

3MC syndrome is a rare genetic disorder that affects multiple systems in the body. It is caused by mutations in genes that are involved in the development of various organs and tissues. One of the genes associated with 3MC syndrome is the MASP1 gene.

The MASP1 gene provides instructions for making a protein called mannan-binding lectin serine peptidase 1. This protein is involved in the immune system and helps in the detection and destruction of harmful microorganisms. Mutations in the MASP1 gene can cause 3MC syndrome type 1, which affects the development of the face, brain, and other organs.

Symptoms of 3MC Syndrome Type 1

The symptoms of 3MC syndrome type 1 can vary widely among affected individuals. Some common symptoms include:

• Abnormal facial features, such as a small head, wide-set eyes, and a small jaw
• Delayed development, including delayed speech and motor skills
• Intellectual disability
• Hearing loss
• Abnormalities in the limbs, such as shortened fingers or toes
• Abnormalities in the genitalia

Diagnosis of 3MC Syndrome Type 1

Diagnosis of 3MC syndrome type 1 typically involves a physical exam, medical history, and genetic testing. Genetic testing can confirm the presence of mutations in the MASP1 gene. NGS (next-generation sequencing) is a type of genetic testing that can analyze multiple genes at once, making it a useful tool for diagnosing rare genetic disorders like 3MC syndrome type 1.

Cost of MASP1 Gene 3MC Syndrome Type 1 NGS Genetic DNA Test

The cost of MASP1 gene 3MC syndrome type 1 NGS genetic DNA test in India is INR 20,000. DNA Labs India offers this test with accurate results and quick turnaround time.

Conclusion

3MC syndrome type 1 is a rare genetic disorder that affects multiple systems in the body. It is caused by mutations in the MASP1 gene, which is involved in the immune system. Symptoms of 3MC syndrome type 1 can vary widely, and diagnosis involves genetic testing, including NGS. The cost of MASP1 gene 3MC syndrome type 1 NGS genetic DNA test in India is INR 20,000. If you suspect that you or your child may have 3MC syndrome type 1, it is important to consult with a genetic counselor or healthcare provider for proper diagnosis and management.

At DNA Labs India, we offer a wide range of genetic testing services, including NGS genetic DNA testing. Our team of experts is dedicated to providing accurate results and personalized care to every patient. Contact us today to learn more about our services and how we can help you.