Short Description

NGS genetic DNA test detecets for variant and mutation detection in NLRP1 gene for Corneal intraepithelial dyskeratosis and ectodermal dysplasia

PreTest Information

Clinical History of Patient who is going for NLRP1 Gene Corneal intraepithelial dyskeratosis and ectodermal dysplasia NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with NLRP1 Gene Corneal intraepithelial dyskeratosis and ectodermal dysplasia NGS Genetic DNA Test gene NLRP1

Detail Description

NLRP1 Gene Corneal Intraepithelial Dyskeratosis and Ectodermal Dysplasia NGS Genetic DNA Test

DNA Labs India offers a cutting-edge NGS Genetic DNA Test for NLRP1 Gene Corneal Intraepithelial Dyskeratosis and Ectodermal Dysplasia at an affordable cost of INR 20000. This test helps in the diagnosis of a rare genetic disorder that affects the skin, hair, nails, teeth, and sweat glands.

Symptoms

The symptoms of NLRP1 Gene Corneal Intraepithelial Dyskeratosis and Ectodermal Dysplasia include:

• Abnormal growth of hair and nails
• Abnormal sweating
• Abnormal teeth development and tooth loss
• Blistering and peeling skin
• Corneal clouding
• Dental abnormalities
• Dry skin
• Eczema
• Facial erythema
• Hypopigmentation
• Palmoplantar keratoderma
• Photosensitivity
• Reduced tear production
• Sparse hair
• Thin nails

Diagnosis

The diagnosis of NLRP1 Gene Corneal Intraepithelial Dyskeratosis and Ectodermal Dysplasia involves a genetic test to identify mutations in the NLRP1 gene. This test is performed using NGS technology, which allows for the simultaneous sequencing of multiple genes. The test can be done using a blood or saliva sample.

Cost

The cost of the NLRP1 Gene Corneal Intraepithelial Dyskeratosis and Ectodermal Dysplasia NGS Genetic DNA Test is INR 20000.

Conclusion

NLRP1 Gene Corneal Intraepithelial Dyskeratosis and Ectodermal Dysplasia is a rare genetic disorder that affects various parts of the body. DNA Labs India offers an affordable NGS Genetic DNA Test for the diagnosis of this condition, which can help patients receive the appropriate treatment and management. If you or someone you know is experiencing symptoms related to this condition, it is important to seek medical attention and consider genetic testing.

Contact DNA Labs India today to schedule your NLRP1 Gene Corneal Intraepithelial Dyskeratosis and Ectodermal Dysplasia NGS Genetic DNA Test.

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 NLRP1 Gene Corneal intraepithelial dyskeratosis and ectodermal dysplasia NGS Genetic DNA Test