Short Description

NGS genetic DNA test detecets for variant and mutation detection in KRT14 gene for Naegeli-Franceschetti-Jadassohn syndrome

PreTest Information

Clinical History of Patient who is going for KRT14 Gene Naegeli-Franceschetti-Jadassohn syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with KRT14 Gene Naegeli-Franceschetti-Jadassohn syndrome NGS Genetic DNA Test gene KRT14

Detail Description

KRT14 Gene Naegeli-Franceschetti-Jadassohn Syndrome NGS Genetic DNA Test

Naegeli-Franceschetti-Jadassohn syndrome, also known as NFJS, is a rare inherited disorder that affects the skin, nails, and sweat glands. It is caused by mutations in the KRT14 gene, which provides instructions for making a protein called keratin 14. This protein is essential for the normal development and function of skin, nails, and sweat glands.

Symptoms of NFJS can vary from person to person but may include:

• Hyperkeratosis (thick, scaly patches of skin)
• Hypohidrosis (reduced sweating)
• Pitted nails
• Abnormal hair growth
• Enlarged pores

Diagnosis of NFJS is typically based on clinical examination and skin biopsy. However, genetic testing can confirm the diagnosis and identify the specific KRT14 mutation responsible for the condition.

NGS, or next-generation sequencing, is a powerful genetic testing technique that can analyze multiple genes simultaneously. This makes it an efficient and cost-effective way to test for NFJS and other inherited disorders.

At DNA Labs India, we offer a comprehensive NGS genetic DNA test for NFJS that includes analysis of the KRT14 gene. Our test costs INR 20,000 and can provide a definitive diagnosis for individuals suspected of having NFJS.

Early diagnosis and management of NFJS are crucial for preventing complications and improving quality of life. If you or a loved one is experiencing symptoms of NFJS, consider getting tested with DNA Labs India's 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 KRT14 Gene Naegeli-Franceschetti-Jadassohn syndrome NGS Genetic DNA Test