Short Description

NGS genetic DNA test detecets for variant and mutation detection in FAT4 gene for Van Maldergem syndrome type 2

PreTest Information

Clinical History of Patient who is going for FAT4 Gene Van Maldergem syndrome type 2 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with FAT4 Gene Van Maldergem syndrome type 2 NGS Genetic DNA Test gene FAT4

Detail Description

FAT4 Gene Van Maldergem Syndrome Type 2 NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Van Maldergem syndrome type 2 is a rare genetic disorder that affects multiple systems in the body, including the brain, eyes, heart, and skeleton. It is caused by mutations in the FAT4 gene, which provides instructions for making a protein that helps cells stick together and form tissues. FAT4 gene mutations disrupt the normal function of this protein, leading to the signs and symptoms of Van Maldergem syndrome type 2.

Symptoms of Van Maldergem Syndrome Type 2

The symptoms of Van Maldergem syndrome type 2 can vary widely from person to person, even among members of the same family. Some of the common signs and symptoms include:

• Abnormal facial features, such as a small head size (microcephaly), a small jaw (micrognathia), and widely spaced eyes (hypertelorism)
• Intellectual disability and delayed development
• Eye problems, such as cataracts, glaucoma, and nystagmus (involuntary eye movements)
• Heart defects, such as a hole in the heart (atrial septal defect) and abnormalities of the heart valves
• Skeletal abnormalities, such as scoliosis (curvature of the spine), joint contractures, and short fingers and toes

Diagnosis of Van Maldergem Syndrome Type 2

Van Maldergem syndrome type 2 is diagnosed based on the presence of characteristic signs and symptoms, as well as genetic testing. A genetic test called next-generation sequencing (NGS) can identify mutations in the FAT4 gene that are associated with this condition. NGS is a high-throughput method that can analyze large amounts of DNA quickly and accurately, making it a valuable tool for diagnosing rare genetic disorders.

FAT4 Gene Van Maldergem Syndrome Type 2 NGS Genetic DNA Test Cost INR:20000

The cost of the FAT4 gene Van Maldergem syndrome type 2 NGS genetic DNA test is INR 20000. This test is available through DNA Labs India, a leading provider of genetic testing services in India. DNA Labs India uses state-of-the-art equipment and techniques to ensure accurate and reliable results. The test can be ordered online or through a healthcare provider.

Conclusion

Van Maldergem syndrome type 2 is a rare genetic disorder that can cause a range of symptoms affecting multiple systems in the body. Genetic testing, such as the FAT4 gene Van Maldergem syndrome type 2 NGS genetic DNA test, can help diagnose this condition and guide treatment options. If you or a loved one is experiencing symptoms of Van Maldergem syndrome type 2, consider speaking with a healthcare provider about genetic testing options.

Disclaimer: This article is for informational purposes only and should not be used as a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified healthcare provider with any questions you may have regarding a medical condition.

Van Maldergem syndrome type 2 is a rare genetic disorder characterized by a combination of features that can include intellectual disability, distinctive facial features, skeletal abnormalities, heart defects, and other health issues. Mutations in the FAT4 gene have been associated with this condition.

The FAT4 gene provides instructions for producing a protein involved in cell adhesion and signaling processes. Mutations in the FAT4 gene can disrupt these processes, leading to the various clinical features observed in Van Maldergem syndrome type 2.

An NGS (Next-Generation Sequencing) genetic DNA test for the FAT4 gene involves sequencing the DNA to identify any mutations or variations within the gene that could be linked to Van Maldergem syndrome type 2. This testing can help diagnose the condition and identify individuals who carry mutations in the FAT4 gene.

If you suspect that you or someone you know may have Van Maldergem syndrome type 2 or if there's a family history of the condition, it's important to consult with a healthcare professional, such as a geneticist or a pediatrician. They can guide you through the genetic testing process, interpret the results, and provide appropriate recommendations for management and treatment based on the specific genetic findings.