Short Description

NGS genetic DNA test detecets for variant and mutation detection in MTAP gene for Diaphyseal medullary stenosis with malignant fibrous histiocytoma

PreTest Information

Clinical History of Patient who is going for MTAP Gene Diaphyseal medullary stenosis with malignant fibrous histiocytoma NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with MTAP Gene Diaphyseal medullary stenosis with malignant fibrous histiocytoma NGS Genetic DNA Test gene MTAP

Detail Description

MTAP Gene Diaphyseal Medullary Stenosis with Malignant Fibrous Histiocytoma NGS Genetic DNA Test Cost INR: 20000 Symptoms Diagnosis

MTAP gene diaphyseal medullary stenosis with malignant fibrous histiocytoma is a rare genetic disorder that affects the skeletal system and soft tissues. This disorder is caused by mutations in the MTAP gene, which provides instructions for making the methylthioadenosine phosphorylase enzyme. The MTAP gene is located on chromosome 9p21 and is responsible for the breakdown of a molecule called methylthioadenosine. When the MTAP gene is mutated, this enzyme cannot be produced, leading to the buildup of methylthioadenosine and the development of this disorder.

Symptoms

The symptoms of MTAP gene diaphyseal medullary stenosis with malignant fibrous histiocytoma can vary depending on the severity of the disorder. Some common symptoms include:

• Short stature
• Bowing of the legs
• Pain in the limbs
• Difficulty walking
• Fractures
• Bone deformities
• Soft tissue masses
• Weakness and fatigue

Diagnosis

MTAP gene diaphyseal medullary stenosis with malignant fibrous histiocytoma can be diagnosed through a combination of clinical evaluation, medical history, and genetic testing. A doctor may perform a physical examination to check for bone deformities and soft tissue masses. X-rays and other imaging tests may also be used to evaluate the skeletal system. Genetic testing, such as NGS genetic DNA testing, can be used to identify mutations in the MTAP gene.

NGS Genetic DNA Test Cost INR: 20000

The cost of NGS genetic DNA testing for MTAP gene diaphyseal medullary stenosis with malignant fibrous histiocytoma can vary depending on the provider and location. On average, the cost of this test is around INR 20000 in India. However, it is important to note that insurance may cover some or all of the cost of genetic testing.

Conclusion

MTAP gene diaphyseal medullary stenosis with malignant fibrous histiocytoma is a rare genetic disorder that affects the skeletal system and soft tissues. Symptoms can include short stature, bone deformities, and soft tissue masses. Diagnosis can be made through a combination of clinical evaluation and genetic testing, such as NGS genetic DNA testing. The cost of this test is around INR 20000 in India. If you or someone you know is experiencing symptoms of this disorder, it is important to seek medical attention and discuss the possibility of genetic testing with a healthcare provider.

At DNA Labs India, we offer a range of genetic testing services, including NGS genetic DNA testing. Our team of experts is dedicated to providing accurate and timely results to help our clients make informed decisions about their health. Contact us today to learn more about our 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 MTAP Gene Diaphyseal medullary stenosis with malignant fibrous histiocytoma NGS Genetic DNA Test