Short Description

NGS genetic DNA test detecets for variant and mutation detection in WDR35 gene for Short-rib thoracic dysplasia type 7 with or without polydactyly

PreTest Information

Clinical History of Patient who is going for WDR35 Gene Short-rib thoracic dysplasia type 7 with or without polydactyly NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with WDR35 Gene Short-rib thoracic dysplasia type 7 with or without polydactyly NGS Genetic DNA Test gene WDR35

Detail Description

WDR35 Gene Short-rib thoracic dysplasia type 7 with or without polydactyly NGS Genetic DNA Test

Short-rib thoracic dysplasia type 7 with or without polydactyly is a rare genetic disorder that affects skeletal development. It is caused by mutations in the WDR35 gene. Individuals with this condition typically have short ribs, a small chest, and short limbs. They may also have extra fingers or toes (polydactyly).

Symptoms

The symptoms of short-rib thoracic dysplasia type 7 with or without polydactyly can vary widely from person to person. Some of the most common symptoms include:

• Short ribs
• Small chest
• Short limbs
• Polydactyly
• Abnormal curvature of the spine
• Respiratory problems
• Heart defects

Diagnosis

Short-rib thoracic dysplasia type 7 with or without polydactyly is typically diagnosed through a combination of physical exams, medical imaging, and genetic testing. X-rays, CT scans, and MRIs can all be used to identify skeletal abnormalities associated with the condition. Genetic testing, specifically NGS Genetic DNA testing, is used to identify mutations in the WDR35 gene.

NGS Genetic DNA Test Cost

The cost of NGS Genetic DNA testing for short-rib thoracic dysplasia type 7 with or without polydactyly varies depending on the testing facility. At DNA Labs India, the cost for this test is INR 20,000.

Conclusion

Short-rib thoracic dysplasia type 7 with or without polydactyly is a rare genetic disorder that can cause significant skeletal abnormalities. While there is no cure for the condition, early diagnosis through genetic testing can help individuals and their families better understand the condition and plan for appropriate medical care. If you suspect you or a loved one may have short-rib thoracic dysplasia type 7 with or without polydactyly, contact DNA Labs India for more information on NGS Genetic DNA testing.