Short Description

NGS genetic DNA test detecets for variant and mutation detection in WDR19 gene for Short-rib thoracic dysplasia type 5 with or without polydactyly

PreTest Information

Clinical History of Patient who is going for WDR19 Gene Short-rib thoracic dysplasia type 5 with or without polydactyly NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with WDR19 Gene Short-rib thoracic dysplasia type 5 with or without polydactyly NGS Genetic DNA Test gene WDR19

Detail Description

WDR19 Gene Short-rib thoracic dysplasia type 5 with or without polydactyly NGS Genetic DNA Test

Short-rib thoracic dysplasia (SRTD) is a rare genetic disorder that affects skeletal development. It is characterized by shortening of the ribs, a small chest, and short limbs. SRTD is caused by mutations in several genes, one of which is WDR19. The WDR19 gene provides instructions for making a protein that is involved in the development and maintenance of cilia, which are microscopic, hair-like structures that line the respiratory tract, fallopian tubes, and other organs.

Short-rib thoracic dysplasia type 5 with or without polydactyly (SRTD5) is caused by mutations in the WDR19 gene. It is an autosomal recessive disorder, which means that a person must inherit two copies of the mutated gene (one from each parent) to develop the condition.

Symptoms of SRTD5

The symptoms of SRTD5 can vary widely from person to person, even among those with the same genetic mutation. Some common symptoms include:

• Short stature
• Shortening of the ribs
• Small chest
• Short limbs
• Polydactyly (extra fingers or toes)
• Abnormalities of the skull, face, and spine
• Respiratory problems
• Heart defects
• Kidney problems

Diagnosis of SRTD5

SRTD5 is typically diagnosed in infancy or early childhood. The diagnosis is based on a combination of clinical features, imaging studies, and genetic testing. X-rays and CT scans can reveal the characteristic skeletal abnormalities of SRTD5. Genetic testing can confirm the presence of mutations in the WDR19 gene.

NGS Genetic DNA Test for SRTD5

Next-generation sequencing (NGS) is a powerful tool for genetic testing. It allows for the rapid and accurate analysis of multiple genes at once. DNA Labs India offers an NGS genetic DNA test for SRTD5, which includes analysis of the WDR19 gene.

The cost of the NGS genetic DNA test for SRTD5 at DNA Labs India is INR 20,000.

Conclusion

SRTD5 is a rare genetic disorder caused by mutations in the WDR19 gene. It is characterized by shortening of the ribs, a small chest, and short limbs, as well as other symptoms. Diagnosis is based on a combination of clinical features, imaging studies, and genetic testing. DNA Labs India offers an NGS genetic DNA test for SRTD5, which includes analysis of the WDR19 gene.

Early diagnosis and management of SRTD5 can improve outcomes and quality of life for affected individuals and their families.

Contact DNA Labs India today to learn more about our NGS genetic DNA test for SRTD5.