Short Description

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

PreTest Information

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

Detail Description

EDARADD Gene Ectodermal Dysplasia: Symptoms, Diagnosis and NGS Genetic DNA Test Cost

Ectodermal dysplasia is a genetic disorder that affects the development of ectodermal structures, including the skin, hair, nails, and teeth. One type of ectodermal dysplasia is hypohidrotic ectodermal dysplasia, which is characterized by a reduced ability to sweat, sparse hair, and missing or malformed teeth. This condition is caused by mutations in the EDARADD gene, which provides instructions for making a protein that is involved in the development of ectodermal structures.

Symptoms of Hypohidrotic Ectodermal Dysplasia

The symptoms of hypohidrotic ectodermal dysplasia can vary widely between affected individuals, even within the same family. Some common symptoms include:

• Reduced ability to sweat
• Sparse hair, including eyebrows and eyelashes
• Missing or malformed teeth
• Thin, dry, and easily irritated skin
• Difficulty regulating body temperature

Some individuals may also have additional symptoms, such as hearing loss, vision problems, or cleft lip and palate.

Diagnosis of Hypohidrotic Ectodermal Dysplasia

Hypohidrotic ectodermal dysplasia is usually diagnosed based on the presence of characteristic symptoms and a family history of the condition. Genetic testing can also be used to confirm the diagnosis and identify the specific mutation in the EDARADD gene responsible for the condition.

NGS Genetic DNA Test Cost

The cost of NGS genetic DNA testing for hypohidrotic ectodermal dysplasia can vary depending on the specific laboratory and testing method used. At DNA Labs India, the cost of NGS genetic DNA testing for EDARADD gene mutations associated with hypohidrotic ectodermal dysplasia is INR 20,000.

Conclusion

Hypohidrotic ectodermal dysplasia is a rare genetic condition that can have a significant impact on an individual's quality of life. Early diagnosis and genetic testing can help affected individuals and their families better understand the condition and access appropriate medical and dental care. DNA Labs India offers NGS genetic DNA testing for EDARADD gene mutations associated with hypohidrotic ectodermal dysplasia at an affordable cost.