Short Description

NGS genetic DNA test detecets for variant and mutation detection in WNT5A gene for Robinow syndrome, autosomal dominant type 1

PreTest Information

Clinical History of Patient who is going for WNT5A Gene Robinow syndrome, autosomal dominant type 1 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with WNT5A Gene Robinow syndrome, autosomal dominant type 1 NGS Genetic DNA Test gene WNT5A

Detail Description

WNT5A Gene Robinow Syndrome: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost

Robinow syndrome, autosomal dominant type 1 is a rare genetic disorder that affects bone development and other parts of the body. It is caused by mutations in the WNT5A gene and is inherited in an autosomal dominant pattern, which means that a person only needs to inherit one copy of the mutated gene from one parent to develop the condition.

Symptoms of Robinow Syndrome, Autosomal Dominant Type 1

The symptoms of Robinow syndrome, autosomal dominant type 1 can vary in severity, even among members of the same family who have the condition. Some of the most common symptoms include:

• Short stature
• Abnormal facial features, such as a small jaw, a flat nasal bridge, and widely spaced eyes
• Short fingers and toes
• Spinal abnormalities, such as scoliosis or lordosis
• Delayed bone age
• Intellectual disability

Diagnosis of Robinow Syndrome, Autosomal Dominant Type 1

Robinow syndrome, autosomal dominant type 1 can be diagnosed through genetic testing. A healthcare provider may order a test that specifically looks for mutations in the WNT5A gene to confirm a diagnosis. Other tests that may be ordered to help diagnose the condition include:

• X-rays to look for bone abnormalities
• Ultrasounds to check for kidney or heart abnormalities
• Eye exams to look for vision problems
• Hearing tests to check for hearing loss

NGS Genetic DNA Test Cost for Robinow Syndrome, Autosomal Dominant Type 1

The cost of a Next-Generation Sequencing (NGS) genetic DNA test for Robinow syndrome, autosomal dominant type 1 can vary depending on the laboratory that performs the test. At DNA Labs India, the cost for this test is INR 20,000. This test is performed using state-of-the-art technology that can detect mutations in the WNT5A gene with high accuracy.

Conclusion

Robinow syndrome, autosomal dominant type 1 is a rare genetic disorder that can cause a range of symptoms, including short stature, abnormal facial features, and spinal abnormalities. It can be diagnosed through genetic testing, and a Next-Generation Sequencing (NGS) genetic DNA test can be performed to detect mutations in the WNT5A gene. If you suspect that you or a loved one may have Robinow syndrome, autosomal dominant type 1, talk to your healthcare provider about genetic testing options.

At DNA Labs India, we offer a range of genetic testing services, including NGS genetic DNA testing, to help diagnose a variety of genetic disorders. Contact us today to learn more about our services.