Short Description

NGS genetic DNA test detecets for variant and mutation detection in LIFR gene for Stuve-Wiedemann syndrome

PreTest Information

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

Detail Description

DNA Labs India: Understanding Stuve-Wiedemann Syndrome through NGS Genetic DNA Testing

Stuve-Wiedemann Syndrome is a rare genetic disorder that affects bone development and can lead to life-threatening complications. This condition is caused by mutations in the LIFR gene, which provides instructions for making a protein that is essential for the normal growth and development of bones and other tissues.

Symptoms of Stuve-Wiedemann Syndrome

The symptoms of Stuve-Wiedemann Syndrome can vary depending on the severity of the condition. Some of the common symptoms include:

• Short stature
• Bowed legs and other skeletal abnormalities
• Respiratory problems
• Low body temperature
• Feeding difficulties
• High fever
• Seizures

Some children with this condition may also have a weak immune system, which can increase their risk of infections.

Diagnosis of Stuve-Wiedemann Syndrome

Stuve-Wiedemann Syndrome is typically diagnosed based on the child's symptoms and physical examination. Genetic testing is also available to confirm the diagnosis. This involves analyzing the child's DNA for mutations in the LIFR gene using Next-Generation Sequencing (NGS) technology.

NGS genetic DNA testing offers a highly accurate and reliable way to detect mutations in the LIFR gene. This test can help doctors make an accurate diagnosis and provide appropriate treatment and management for the child's condition.

Cost of NGS Genetic DNA Testing for Stuve-Wiedemann Syndrome

The cost of NGS genetic DNA testing for Stuve-Wiedemann Syndrome at DNA Labs India is INR 20,000. This includes the cost of sample collection, DNA extraction, and analysis using NGS technology.

While the cost of genetic testing may seem high, it is important to remember that accurate diagnosis is crucial for providing appropriate treatment and management for the child's condition. In addition, genetic testing can provide valuable information about the risk of the condition occurring in future pregnancies.

Conclusion

Stuve-Wiedemann Syndrome is a rare genetic disorder that can have serious complications. NGS genetic DNA testing offers an accurate and reliable way to diagnose this condition and provide appropriate treatment and management. DNA Labs India offers affordable and reliable NGS genetic DNA testing for Stuve-Wiedemann Syndrome and other genetic disorders.

If you suspect that your child may have Stuve-Wiedemann Syndrome or another genetic disorder, talk to your doctor about genetic testing and contact DNA Labs India for more information.

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 LIFR Gene Stuve-Wiedemann syndrome NGS Genetic DNA Test