Short Description

NGS genetic DNA test detecets for variant and mutation detection in NPR2 gene for Acromesomelic dysplasia, Maroteaux type

PreTest Information

Clinical History of Patient who is going for NPR2 Gene Acromesomelic dysplasia, Maroteaux type NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with NPR2 Gene Acromesomelic dysplasia, Maroteaux type NGS Genetic DNA Test gene NPR2

Detail Description

NPR2 Gene Acromesomelic Dysplasia, Maroteaux Type NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Acromesomelic dysplasia, Maroteaux type is a rare genetic disorder that affects bone growth. It is caused by mutations in the NPR2 gene, which provides instructions for making a protein called natriuretic peptide receptor B (NPR-B). This protein plays a critical role in the growth and development of bones and cartilage.

Symptoms of Acromesomelic Dysplasia, Maroteaux Type

The symptoms of acromesomelic dysplasia, Maroteaux type can vary depending on the severity of the condition. Some common symptoms include:

• Short stature
• Abnormal curvature of the spine
• Shortening and widening of the long bones in the arms and legs
• Joint pain and stiffness
• Abnormalities of the fingers and toes

Diagnosis of Acromesomelic Dysplasia, Maroteaux Type

Acromesomelic dysplasia, Maroteaux type is diagnosed through a combination of physical examination, medical history, and genetic testing. A doctor may order imaging tests, such as X-rays or MRI scans, to evaluate bone growth and detect any abnormalities. Genetic testing, such as NGS (Next Generation Sequencing), can identify mutations in the NPR2 gene.

NGS Genetic DNA Test Cost

The cost of NGS genetic DNA testing for acromesomelic dysplasia, Maroteaux type in India is approximately INR 20,000. This cost may vary depending on the specific testing facility and any additional tests that may be required.

Conclusion

Acromesomelic dysplasia, Maroteaux type is a rare genetic disorder that affects bone growth. Genetic testing, such as NGS, can help diagnose the condition and provide important information about the underlying genetic mutations. If you or a loved one are experiencing symptoms of acromesomelic dysplasia, Maroteaux type, it is important to speak with a healthcare provider to discuss testing and treatment options.

At DNA Labs India, we offer NGS genetic DNA testing for a variety of genetic conditions, including acromesomelic dysplasia, Maroteaux type. Our team of experienced professionals is dedicated to providing accurate and timely results to help individuals and families make informed decisions about their health.

Contact us today to learn more about our genetic testing services.

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 NPR2 Gene Acromesomelic dysplasia, Maroteaux type NGS Genetic DNA Test