Short Description

NGS genetic DNA test detecets for variant and mutation detection in RIPK4 gene for Popliteal pterygium syndrome, lethal type

PreTest Information

Clinical History of Patient who is going for RIPK4 Gene Popliteal pterygium syndrome, lethal type NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with RIPK4 Gene Popliteal pterygium syndrome, lethal type NGS Genetic DNA Test gene RIPK4

Detail Description

RIPK4 Gene Popliteal Pterygium Syndrome, Lethal Type NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Popliteal pterygium syndrome (PPS) is a rare genetic disorder that affects the development of certain parts of the body, including the skin, nails, and teeth. The lethal type of PPS is caused by mutations in the RIPK4 gene, which is responsible for regulating the development of certain tissues during embryonic development.

Symptoms of RIPK4 Gene Popliteal Pterygium Syndrome

The symptoms of RIPK4 gene PPS can vary widely depending on the severity of the condition and the specific mutations involved. Some of the most common symptoms include:

• Webbing of the skin between the fingers and toes
• Abnormal nail development or missing nails
• Abnormalities in the mouth, including cleft lip or palate
• Abnormalities in the genitalia
• Abnormalities in the eyes or vision
• Abnormalities in the ears or hearing

In severe cases, RIPK4 gene PPS can also cause life-threatening complications, including respiratory distress, feeding difficulties, and neurological problems.

Diagnosis of RIPK4 Gene Popliteal Pterygium Syndrome

Diagnosing RIPK4 gene PPS can be challenging because the symptoms can vary widely and may not be apparent until after birth. However, genetic testing can help confirm a diagnosis and identify the specific mutations involved. Next-generation sequencing (NGS) is a type of genetic testing that can analyze multiple genes at once, making it a useful tool for diagnosing rare genetic disorders like RIPK4 gene PPS.

NGS Genetic DNA Test Cost INR:20000

The cost of an NGS genetic DNA test for RIPK4 gene PPS in India is approximately INR 20,000. This cost may vary depending on the specific testing facility and any additional tests or consultations that may be required.

Conclusion

RIPK4 gene PPS is a rare genetic disorder that can cause a wide range of symptoms and complications. If you or a loved one is experiencing any of the symptoms associated with PPS, it is important to seek medical attention as soon as possible. Genetic testing, including NGS, can help confirm a diagnosis and provide valuable information for managing the condition and preventing complications.

At DNA Labs India, we offer a wide range of genetic testing services, including NGS testing for RIPK4 gene PPS. Our experienced team of genetic counselors and laboratory professionals can help guide you through the testing process and provide personalized support every step of the way. Contact us today to learn more about our genetic testing services and how we can help you.

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 RIPK4 Gene Popliteal pterygium syndrome, lethal type NGS Genetic DNA Test