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Accurate Test Results for PKP1 Gene Ectodermal dysplasia/skin fragility syndrome NGS Genetic DNA Test
PKP1 Gene Ectodermal dysplasia/skin fragility syndrome NGS Genetic DNA Test Cost 20000 Rs
PKP1 Gene Ectodermal dysplasia/skin fragility syndrome NGS Genetic DNA Test Details
PKP1 Gene Ectodermal Dysplasia/Skin Fragility Syndrome NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis
Ectodermal dysplasia/skin fragility syndrome is a rare genetic disorder that affects the skin and hair. It is caused by mutations in the PKP1 gene. This gene provides instructions for making a protein called plakophilin-1, which is important for the normal development and maintenance of the skin and hair. Mutations in the PKP1 gene can lead to the signs and symptoms of ectodermal dysplasia/skin fragility syndrome.
Symptoms of Ectodermal Dysplasia/Skin Fragility Syndrome
The signs and symptoms of ectodermal dysplasia/skin fragility syndrome can vary widely from person to person. Some of the most common symptoms include:
- Fragile, easily damaged skin that blisters and peels
- Slow wound healing
- Fragile hair that breaks easily
- Abnormal nail growth and shape
- Abnormal teeth development
- Increased susceptibility to infections
These symptoms can be present at birth or may develop later in life. They can range from mild to severe and can affect different parts of the body.
Diagnosis of Ectodermal Dysplasia/Skin Fragility Syndrome
Ectodermal dysplasia/skin fragility syndrome is diagnosed through genetic testing. A blood or saliva sample is taken and analyzed for mutations in the PKP1 gene. If a mutation is found, a diagnosis of ectodermal dysplasia/skin fragility syndrome can be made.
NGS Genetic DNA Test for Ectodermal Dysplasia/Skin Fragility Syndrome
NGS (Next-Generation Sequencing) is a powerful genetic testing method that can analyze multiple genes at once. This makes it an ideal tool for diagnosing rare genetic disorders like ectodermal dysplasia/skin fragility syndrome. The NGS genetic DNA test for ectodermal dysplasia/skin fragility syndrome costs INR 20000 in DNA Labs India.
The test involves taking a blood or saliva sample and analyzing it for mutations in the PKP1 gene. Results are usually available within a few weeks. If a mutation is found, a diagnosis of ectodermal dysplasia/skin fragility syndrome can be made.
Conclusion
Ectodermal dysplasia/skin fragility syndrome is a rare genetic disorder that can cause a range of symptoms affecting the skin and hair. It is caused by mutations in the PKP1 gene. Genetic testing, such as the NGS genetic DNA test offered by DNA Labs India, can help diagnose this condition. If you or a loved one are experiencing symptoms of ectodermal dysplasia/skin fragility syndrome, talk to your doctor about genetic testing.
For more information on the NGS genetic DNA test for ectodermal dysplasia/skin fragility syndrome, contact DNA Labs India today.
Before getting tested ask for Raw Data, FASTQ, and VCF files along with clinical test report from DNA Testing Lab. DNA Labs India is the Only lab that is transparent and will share Raw Data, FASTQ, and VCF files along with the conclusive clinical report for PKP1 Gene Ectodermal dysplasia/skin fragility syndrome NGS Genetic DNA Test
