Short Description

NGS genetic DNA test detecets for variant and mutation detection in EVC2 gene for Ellis-van Creveld syndrome

PreTest Information

Clinical History of Patient who is going for EVC2 Gene Ellis-van Creveld syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with EVC2 Gene Ellis-van Creveld syndrome NGS Genetic DNA Test gene EVC2

Detail Description

EVC2 Gene Ellis-van Creveld Syndrome NGS Genetic DNA Test Cost INR 20000 Symptoms Diagnosis

Ellis-van Creveld Syndrome (EVC) is a rare genetic disorder that affects bone growth and development. It is caused by mutations in the EVC or EVC2 genes. These genes provide instructions for making proteins that are involved in bone and cartilage development. Mutations in the EVC or EVC2 genes lead to the production of abnormal proteins that disrupt normal bone and cartilage growth, resulting in the characteristic features of EVC syndrome.

The symptoms of EVC syndrome can vary widely, even among people with the same genetic mutation. Common features of EVC syndrome include short stature, short limbs, extra fingers or toes, and abnormal development of the teeth. Other possible symptoms include heart defects, respiratory problems, and intellectual disability.

The diagnosis of EVC syndrome is usually based on clinical features, such as physical examination and medical history, along with genetic testing. DNA Labs India offers NGS Genetic DNA Test for EVC2 gene mutations. The cost of this test is INR 20000. This test is a highly sensitive and specific method for detecting mutations in the EVC2 gene.

The NGS Genetic DNA Test for EVC2 gene mutations involves collecting a blood or saliva sample from the patient. The DNA in the sample is then sequenced using advanced technology that can detect mutations in the EVC2 gene. The results of the test can help confirm a diagnosis of EVC syndrome and provide information on the specific mutation present in the patient.

In conclusion, EVC syndrome is a rare genetic disorder that affects bone growth and development. It can cause a wide range of symptoms, including short stature, extra fingers or toes, and heart defects. The diagnosis of EVC syndrome is usually based on clinical features and genetic testing, such as the NGS Genetic DNA Test offered by DNA Labs India at a cost of INR 20000. If you or a loved one is experiencing symptoms of EVC syndrome, it is important to consult a medical professional for proper diagnosis and treatment.

The EVC2 gene is another gene associated with Ellis-van Creveld syndrome (EVC syndrome), a rare genetic disorder characterized by skeletal abnormalities, short stature, and other features. Mutations in the EVC2 gene, along with mutations in the EVC gene, are responsible for causing this syndrome.

A Next-Generation Sequencing (NGS) genetic DNA test for the EVC2 gene would involve sequencing the DNA of an individual to identify any variations or mutations within the EVC2 gene that could be linked to Ellis-van Creveld syndrome. This type of test can aid in confirming a diagnosis, providing information for medical management, and assisting with genetic counseling.

If you suspect that someone might have Ellis-van Creveld syndrome, or if there's a family history of the condition, it's important to consult with a medical geneticist or a healthcare professional with expertise in genetics. They can guide you through the process of genetic testing, provide appropriate counseling, and help interpret the test results. Genetic testing can offer valuable insights into the genetic basis of the condition and assist in making informed medical decisions.