Short Description

NGS genetic DNA test detecets for variant and mutation detection in DLL3 gene for Spondylocostal dysostosis, autosomal recessive type 1

PreTest Information

Clinical History of Patient who is going for DLL3 Gene Spondylocostal dysostosis, autosomal recessive type 1 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with DLL3 Gene Spondylocostal dysostosis, autosomal recessive type 1 NGS Genetic DNA Test gene DLL3

Detail Description

DLL3 Gene Spondylocostal Dysostosis, Autosomal Recessive Type 1: NGS Genetic DNA Test Cost and Symptoms Diagnosis

Spondylocostal dysostosis (SCD) is a rare genetic disorder that affects the spine and ribs. It is caused by mutations in the DLL3 gene, which codes for a protein that is important for the development of the spine and ribs. SCD is an autosomal recessive disorder, which means that a person must inherit two copies of the mutated gene (one from each parent) in order to develop the disorder.

There are several types of SCD, including autosomal recessive type 1 (SCD-AR1), which is caused by mutations in the DLL3 gene. SCD-AR1 is characterized by abnormalities in the spine and ribs, including fused vertebrae, missing ribs, and abnormal curvature of the spine. Other symptoms may include short stature, breathing difficulties, and heart defects.

Symptoms of SCD-AR1

The symptoms of SCD-AR1 can vary widely from person to person, and may include:

• Abnormal curvature of the spine (scoliosis or kyphosis)
• Fused vertebrae
• Missing ribs
• Short stature
• Breathing difficulties
• Heart defects

Diagnosis of SCD-AR1

SCD-AR1 is typically diagnosed based on a combination of clinical evaluation, imaging studies (such as X-rays and CT scans), and genetic testing. Genetic testing can identify mutations in the DLL3 gene that are associated with SCD-AR1.

NGS Genetic DNA Test Cost

The cost of NGS genetic DNA testing for SCD-AR1 in India is typically around INR 20,000. This test uses next-generation sequencing (NGS) technology to sequence the DLL3 gene and identify any mutations that may be present.

Conclusion

SCD-AR1 is a rare genetic disorder that affects the spine and ribs. It is caused by mutations in the DLL3 gene, and is inherited in an autosomal recessive manner. Symptoms can vary widely from person to person, and may include abnormalities in the spine and ribs, short stature, breathing difficulties, and heart defects. Diagnosis typically involves clinical evaluation, imaging studies, and genetic testing. NGS genetic DNA testing for SCD-AR1 typically costs around INR 20,000.

If you or a loved one is experiencing symptoms of SCD-AR1, it is important to talk to a healthcare provider or genetic counselor. They can help determine if genetic testing is appropriate, and can provide information and support for managing the disorder.

Contact DNA Labs India for more information about NGS genetic DNA testing for SCD-AR1.