Short Description

NGS genetic DNA test detecets for variant and mutation detection in WISP3 gene for Arthropathy, progressive pseudorheumatoid, of childhood

PreTest Information

Clinical History of Patient who is going for WISP3 Gene Arthropathy, progressive pseudorheumatoid, of childhood NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with WISP3 Gene Arthropathy, progressive pseudorheumatoid, of childhood NGS Genetic DNA Test gene WISP3

Detail Description

Understanding WISP3 Gene Arthropathy: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost

WISP3 gene arthropathy, also known as progressive pseudorheumatoid arthropathy of childhood (PPAC), is a rare genetic disorder that affects the joints, bones, and cartilage. It is caused by mutations in the WISP3 gene, which provides instructions for making a protein that plays a crucial role in the growth and maintenance of these tissues.

Symptoms

PPAC typically begins in early childhood, between the ages of 3 and 8, and affects both boys and girls equally. The first symptoms are usually joint pain and stiffness, particularly in the hands, feet, and spine. Over time, these symptoms progress to include:

• Swelling and inflammation
• Limited range of motion
• Difficulty with fine motor skills
• Short stature
• Bone deformities
• Scoliosis
• Joint contractures

PPAC can also cause dental problems, such as delayed tooth eruption and abnormal tooth development.

Diagnosis

Diagnosing PPAC can be challenging, as its symptoms can be similar to those of other conditions, such as juvenile idiopathic arthritis. A thorough physical exam, medical history, and imaging tests, such as X-rays and MRIs, can help rule out other conditions.

Genetic testing is the most reliable way to diagnose PPAC. Next-generation sequencing (NGS) genetic DNA testing can detect mutations in the WISP3 gene with high accuracy. The test involves taking a small blood or saliva sample and analyzing it in a laboratory. The results can help confirm a PPAC diagnosis and inform treatment decisions.

NGS Genetic DNA Test Cost

The cost of an NGS genetic DNA test for PPAC in India typically ranges from INR 15,000 to INR 25,000, depending on the specific test and laboratory. Some insurance plans may cover the cost of genetic testing, and financial assistance programs may be available to help offset the cost for those who cannot afford it.

Conclusion

WISP3 gene arthropathy, or PPAC, is a rare genetic disorder that can cause significant joint and bone problems in children. Early diagnosis and treatment are essential for managing symptoms and improving quality of life. NGS genetic DNA testing can provide a reliable diagnosis and inform treatment decisions. If you suspect your child may have PPAC, talk to your healthcare provider about genetic testing and available resources for testing costs.

For more information on genetic testing and PPAC, contact DNA Labs India.

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 WISP3 Gene Arthropathy, progressive pseudorheumatoid, of childhood NGS Genetic DNA Test