Short Description

NGS genetic DNA test detecets for variant and mutation detection in AR gene for Spinal and bulbar muscular atrophy X-linked

PreTest Information

Clinical History of Patient who is going for AR Gene Spinal and bulbar muscular atrophy X-linked NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with AR Gene Spinal and bulbar muscular atrophy X-linked

Detail Description

AR Gene Spinal and Bulbar Muscular Atrophy X-linked NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Spinal and bulbar muscular atrophy (SBMA) is a rare genetic disorder that affects the nerves that control muscle movement. It is also known as Kennedy's disease after the neurologist who first described it. SBMA is caused by a mutation in the androgen receptor (AR) gene, which is located on the X chromosome. This means that it is an X-linked genetic disorder, and it primarily affects males.

SBMA is characterized by progressive muscle weakness and wasting, especially in the arms and legs. It can also affect the muscles involved in speech, swallowing, and breathing, which can lead to difficulty speaking, eating, and breathing. Other symptoms of SBMA may include tremors, muscle cramps, and difficulty with coordination and balance.

Diagnosis of SBMA is typically made through a combination of clinical examination, genetic testing, and electromyography (EMG). Genetic testing involves analyzing a person's DNA for mutations in the AR gene. Next-generation sequencing (NGS) is a highly sensitive and specific method for detecting mutations in genetic disorders like SBMA.

DNA Labs India offers an AR gene SBMA X-linked NGS genetic DNA test for INR 20000. This test can detect mutations in the AR gene with a high degree of accuracy, allowing for early diagnosis of SBMA. Early diagnosis is important for effective management of symptoms and improving quality of life for patients with SBMA.

The AR gene SBMA X-linked NGS genetic DNA test is a simple and non-invasive test that involves collecting a small sample of blood or saliva from the patient. The sample is then sent to a laboratory for analysis, and results are typically available within a few weeks.

It is important to note that SBMA is a rare genetic disorder, and not all cases are caused by mutations in the AR gene. Other genetic and environmental factors may also contribute to the development of SBMA. Therefore, a negative result on the AR gene SBMA X-linked NGS genetic DNA test does not rule out the possibility of SBMA.

In summary, the AR gene SBMA X-linked NGS genetic DNA test offered by DNA Labs India is an accurate and reliable method for diagnosing SBMA. Early diagnosis is important for effective management of symptoms and improving quality of life for patients with SBMA. The cost of the test is INR 20000, and results are typically available within a few weeks.

For more information on the AR gene SBMA X-linked NGS genetic DNA test or to schedule an appointment, contact DNA Labs India.