Short Description

NGS genetic DNA test detecets for variant and mutation detection in CTSC gene for Papillon-Lefevre syndrome

PreTest Information

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

Detail Description

CTSC Gene Papillon-Lefevre Syndrome NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Papillon-Lefevre syndrome (PLS) is a rare autosomal recessive disorder that affects the skin and teeth. It is caused by a mutation in the CTSC gene, which codes for the enzyme cathepsin C. This enzyme is important for the normal development and function of immune cells and certain tissues in the body, including skin and teeth. The CTSC gene is located on chromosome 11q14-q21 and contains 7 exons.

PLS is characterized by hyperkeratosis of the palms and soles, early onset periodontitis, and premature loss of primary and permanent teeth. The skin lesions usually appear during the first year of life and progress to involve the entire palmoplantar surface. The periodontal disease is severe and rapidly progressive, leading to complete loss of teeth by the second or third decade of life. Other features of PLS may include recurrent skin infections, nail dystrophy, and increased susceptibility to bacterial infections.

The diagnosis of PLS is based on clinical findings, family history, and genetic testing. The CTSC gene mutation can be detected by next-generation sequencing (NGS) technology, which allows for the simultaneous analysis of multiple genes. DNA Labs India offers CTSC Gene Papillon-Lefevre Syndrome NGS Genetic DNA Test at a cost of INR 20000.

The test requires a blood or saliva sample, which is analyzed for mutations in the CTSC gene. Results are usually available within 2-3 weeks. Genetic counseling is recommended for individuals who test positive for the CTSC gene mutation, as it is an autosomal recessive disorder and there is a 25% chance of passing the mutation on to offspring.

In summary, PLS is a rare genetic disorder caused by a mutation in the CTSC gene. The disease is characterized by hyperkeratosis of the palms and soles, early onset periodontitis, and premature loss of teeth. The diagnosis is based on clinical findings and genetic testing. DNA Labs India offers CTSC Gene Papillon-Lefevre Syndrome NGS Genetic DNA Test at a cost of INR 20000, which can help in the early diagnosis of the disease and provide genetic counseling for affected individuals.