Short Description

NGS genetic DNA test detecets for variant and mutation detection in EDAR gene for Ectodermal dysplasia, hypohidrotic, autosomal recessive

PreTest Information

Clinical History of Patient who is going for EDAR Gene Ectodermal dysplasia, hypohidrotic, autosomal recessive NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with EDAR Gene Ectodermal dysplasia, hypohidrotic, autosomal recessive NGS Genetic DNA Test gene EDAR

Detail Description

EDAR Gene Ectodermal Dysplasia: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost in India

Ectodermal dysplasia is a rare genetic disorder that affects the development of the hair, nails, sweat glands, and teeth. It is caused by mutations in different genes, including the EDAR gene. EDAR gene ectodermal dysplasia is a subtype of ectodermal dysplasia that is inherited in an autosomal recessive pattern. This means that a person must inherit two copies of the mutated gene, one from each parent, to develop the disorder.

Symptoms of EDAR Gene Ectodermal Dysplasia

People with EDAR gene ectodermal dysplasia may have the following symptoms:

• Hypohidrosis or reduced ability to sweat, which can lead to overheating
• Hypotrichosis or sparse hair growth, including eyebrows and eyelashes
• Anodontia or missing teeth
• Abnormal tooth shape and structure
• Fingernail and toenail abnormalities

The severity of these symptoms can vary from person to person. Some people may only have mild symptoms, while others may have more severe symptoms that can affect their quality of life.

Diagnosis of EDAR Gene Ectodermal Dysplasia

Diagnosis of EDAR gene ectodermal dysplasia is based on clinical features and genetic testing. A doctor may perform a physical examination to look for the characteristic symptoms of the disorder. Genetic testing can confirm the diagnosis by identifying mutations in the EDAR gene.

NGS Genetic DNA Test Cost for EDAR Gene Ectodermal Dysplasia in India

NGS or next-generation sequencing is a powerful genetic testing technology that can identify mutations in multiple genes simultaneously. It is a useful tool for the diagnosis of genetic disorders, including EDAR gene ectodermal dysplasia.

The cost of NGS genetic DNA testing for EDAR gene ectodermal dysplasia in India can vary depending on the testing laboratory. On average, the cost of NGS genetic testing for EDAR gene ectodermal dysplasia in India is around INR 20,000. However, the cost may be higher or lower depending on the specific testing laboratory and the extent of the genetic testing required.

Conclusion

EDAR gene ectodermal dysplasia is a rare genetic disorder that can cause a range of symptoms, including hypohidrosis, hypotrichosis, anodontia, and nail abnormalities. Diagnosis of the disorder is based on clinical features and genetic testing. NGS genetic DNA testing is a useful tool for the diagnosis of EDAR gene ectodermal dysplasia. The cost of NGS genetic testing for EDAR gene ectodermal dysplasia in India can vary depending on the testing laboratory.

If you suspect that you or a loved one may have EDAR gene ectodermal dysplasia, it is important to consult a doctor or genetic counselor for diagnosis and management of the disorder.

For more information about genetic testing for EDAR gene ectodermal dysplasia or other genetic disorders, contact DNA Labs India.