Short Description

NGS genetic DNA test detecets for variant and mutation detection in CHSY1 gene for Temtamy preaxial brachydactyly syndrome

PreTest Information

Clinical History of Patient who is going for CHSY1 Gene Temtamy preaxial brachydactyly syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with CHSY1 Gene Temtamy preaxial brachydactyly syndrome NGS Genetic DNA Test gene CHSY1

Detail Description

CHSY1 Gene Temtamy Preaxial Brachydactyly Syndrome NGS Genetic DNA Test Cost INR 20000: Symptoms and Diagnosis

Preaxial brachydactyly syndrome is a rare genetic condition that affects the development of fingers and toes. There are different types of preaxial brachydactyly syndrome, and one of them is caused by mutations in the CHSY1 gene. This type of preaxial brachydactyly syndrome is also known as Temtamy syndrome.

If you suspect that you or your child may have preaxial brachydactyly syndrome caused by the CHSY1 gene mutation, you may want to consider getting a genetic DNA test. DNA Labs India offers an NGS genetic DNA test that can detect mutations in the CHSY1 gene. The cost of this test is INR 20000.

Symptoms of CHSY1 Gene Temtamy Preaxial Brachydactyly Syndrome

The symptoms of CHSY1 gene Temtamy preaxial brachydactyly syndrome can vary in severity, but they typically include:

• Short fingers and/or toes
• Fused or webbed fingers and/or toes
• Abnormal curvature of the fingers and/or toes
• Missing or underdeveloped fingers and/or toes
• Other skeletal abnormalities, such as a short stature or abnormal curvature of the spine

It's important to note that not everyone with a CHSY1 gene mutation will have all of these symptoms, and some people may only have mild symptoms.

Diagnosis of CHSY1 Gene Temtamy Preaxial Brachydactyly Syndrome

The diagnosis of CHSY1 gene Temtamy preaxial brachydactyly syndrome typically involves a physical examination and genetic testing. During a physical exam, a doctor will look for the characteristic finger and/or toe abnormalities associated with the condition.

A genetic DNA test, such as the one offered by DNA Labs India, can confirm a diagnosis of CHSY1 gene Temtamy preaxial brachydactyly syndrome. This test uses next-generation sequencing (NGS) technology to analyze the DNA for mutations in the CHSY1 gene. The test is non-invasive and requires only a small blood or saliva sample.

Conclusion

If you or your child is experiencing symptoms of preaxial brachydactyly syndrome and you suspect that it may be caused by a CHSY1 gene mutation, a genetic DNA test can provide a definitive diagnosis. DNA Labs India offers an NGS genetic DNA test that can detect mutations in the CHSY1 gene, and the cost of the test is INR 20000. By getting a diagnosis, you can better understand the condition and explore treatment options.

It's important to note that genetic testing can also be used for prenatal diagnosis, which can help expectant parents make informed decisions about the pregnancy. If you have any questions about genetic DNA testing or preaxial brachydactyly syndrome, be sure to speak with your doctor or a genetic counselor.

Remember, early detection and treatment can make a big difference in managing the symptoms of preaxial brachydactyly syndrome.