Short Description

NGS genetic DNA test detecets for variant and mutation detection in WDR34 gene for Short-rib thoracic dysplasia type 11 with or without polydactyly

PreTest Information

Clinical History of Patient who is going for WDR34 Gene Short-rib thoracic dysplasia type 11 with or without polydactyly NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with WDR34 Gene Short-rib thoracic dysplasia type 11 with or without polydactyly NGS Genetic DNA Test gene WDR34

Detail Description

WDR34 Gene Short-Rib Thoracic Dysplasia Type 11 with or without Polydactyly NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Short-Rib Thoracic Dysplasia type 11 with or without Polydactyly is a rare genetic disorder that affects the development of bones in the thorax and limbs. It is caused by mutations in the WDR34 gene. The disorder is inherited in an autosomal recessive pattern. This means that a person must inherit two copies of the mutated gene, one from each parent, to develop the disorder.

Symptoms of Short-Rib Thoracic Dysplasia Type 11 with or without Polydactyly

The symptoms of Short-Rib Thoracic Dysplasia type 11 with or without Polydactyly can vary depending on the severity of the disorder. Some common symptoms include:

• Short stature
• Abnormal curvature of the spine (scoliosis)
• Abnormal shape of the chest (narrow and bell-shaped)
• Respiratory problems
• Polydactyly (extra fingers or toes)
• Abnormal shape of the limbs
• Abnormal development of the brain
• Heart defects

Diagnosis of Short-Rib Thoracic Dysplasia Type 11 with or without Polydactyly

Short-Rib Thoracic Dysplasia type 11 with or without Polydactyly can be diagnosed through genetic testing. This involves analyzing a sample of DNA for mutations in the WDR34 gene. Genetic testing can be performed on blood or saliva samples.

Genetic testing is particularly important for individuals who have a family history of the disorder or who have symptoms of the disorder. Early diagnosis can help individuals receive appropriate medical care and support.

NGS Genetic DNA Test Cost

The cost of NGS Genetic DNA testing for Short-Rib Thoracic Dysplasia type 11 with or without Polydactyly in India is approximately INR:20000. This cost may vary depending on the laboratory and the specific tests that are performed.

Conclusion

Short-Rib Thoracic Dysplasia type 11 with or without Polydactyly is a rare genetic disorder that can have significant impacts on an individual's health and well-being. Genetic testing can help individuals and their families receive appropriate medical care and support. If you or a loved one are experiencing symptoms of the disorder, it is important to speak with a healthcare provider or genetic counselor to determine if genetic testing is appropriate.

DNA Labs India offers high-quality genetic testing services for a variety of genetic disorders. Contact us today to learn more about our testing options 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 WDR34 Gene Short-rib thoracic dysplasia type 11 with or without polydactyly NGS Genetic DNA Test