Short Description

NGS genetic DNA test detecets for variant and mutation detection in EFNB1 gene for Craniofrontonasal syndrome

PreTest Information

Clinical History of Patient who is going for EFNB1 Gene Craniofrontonasal syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with EFNB1 Gene Craniofrontonasal syndrome NGS Genetic DNA Test gene EFNB1

Detail Description

EFNB1 Gene Craniofrontonasal Syndrome NGS Genetic DNA Test Cost INR 20000 - Symptoms and Diagnosis

Craniofrontonasal syndrome is a rare genetic disorder that affects the bones, muscles, and tissues of the head and face. It is caused by mutations in the EFNB1 gene, which provides instructions for making a protein that is important for the development of these structures. The syndrome is more common in females than males, and it can vary in severity from mild to severe.

Symptoms of Craniofrontonasal Syndrome

The symptoms of craniofrontonasal syndrome can vary widely from person to person. Some common symptoms include:

• Abnormal head shape
• Wide-set eyes or eyes that are too close together
• Low-set ears
• Abnormalities of the nose
• Abnormalities of the mouth and teeth
• Abnormalities of the skull and brain
• Abnormalities of the hands and feet
• Joint problems
• Muscular weakness or stiffness
• Intellectual disability

Diagnosis of Craniofrontonasal Syndrome

Craniofrontonasal syndrome is diagnosed based on a combination of physical examination, medical history, and genetic testing. Your doctor may perform a physical exam to look for characteristic features of the syndrome, such as an abnormal head shape or wide-set eyes. They may also ask about your family history to see if anyone else in your family has been diagnosed with the syndrome.

To confirm a diagnosis of craniofrontonasal syndrome, your doctor may recommend genetic testing. This can be done through a variety of methods, including:

• NGS (Next Generation Sequencing)
• WES (Whole Exome Sequencing)
• WGS (Whole Genome Sequencing)

These tests can help identify mutations in the EFNB1 gene that are associated with the syndrome. Once a diagnosis is confirmed, your doctor may recommend additional tests or imaging studies to evaluate the extent of the condition and develop a treatment plan.

Cost of EFNB1 Gene Craniofrontonasal Syndrome NGS Genetic DNA Test

The cost of an EFNB1 gene craniofrontonasal syndrome NGS genetic DNA test can vary depending on a variety of factors, including the specific test being performed, the location of the testing facility, and the individual's insurance coverage. However, on average, the cost of this test in India is around INR 20000.

Conclusion

Craniofrontonasal syndrome is a rare genetic disorder that can cause a variety of physical and developmental abnormalities. If you or someone you know is experiencing symptoms of the syndrome, it is important to seek medical attention and undergo genetic testing to confirm a diagnosis. With early diagnosis and appropriate treatment, individuals with craniofrontonasal syndrome can lead healthy, fulfilling lives.

If you are looking for a reliable and accurate genetic testing facility in India, DNA Labs India offers NGS genetic DNA testing for a variety of conditions, including craniofrontonasal syndrome. Contact us today to learn more.