Short Description

Spinal Muscular Atrophy Gene Panel is performed using NGS methodology. Sample that have to be given is Amniotic fluid/ Chorionic villi/ Peripheral blood in Sterile container/ Sterile Normal Saline Container/ EDTA Vacutainer for this test. You can expect results in 4-6 weeks

PreTest Information

Spinal Muscular Atrophy Gene Panel can be done with a Doctor’s prescription. Prescription is not applicable for surgery and pregnancy cases or people planing to travel abroad.

Detail Description

Spinal Muscular Atrophy Gene Panel Cost, Symptoms, and Diagnosis

Spinal Muscular Atrophy (SMA) is a rare genetic disorder that affects the muscles used for movement. It is caused by a mutation in the SMN1 gene, which produces a protein that is essential for the survival of motor neurons. SMA is a progressive disease that can cause muscle weakness, difficulty breathing, and even death.

Fortunately, there are now tests available that can detect the SMN1 gene mutation and provide a diagnosis for SMA. One such test is the Spinal Muscular Atrophy Gene Panel.

What is the Spinal Muscular Atrophy Gene Panel?

The Spinal Muscular Atrophy Gene Panel is a genetic test that analyzes the SMN1 gene and other genes that are associated with SMA. The test is performed on a blood sample or a saliva sample, and it can detect the SMN1 gene mutation with a high degree of accuracy.

The Spinal Muscular Atrophy Gene Panel can also provide information about the severity of the disease and the likelihood of developing symptoms. This information can be used to guide treatment decisions and to provide prognostic information to patients and their families.

What is the Cost of the Spinal Muscular Atrophy Gene Panel?

The cost of the Spinal Muscular Atrophy Gene Panel can vary depending on the laboratory that performs the test. In India, the cost of the test is typically around INR 20,000.

It is important to note that the Spinal Muscular Atrophy Gene Panel is not always covered by insurance, and patients may need to pay for the test out of pocket. However, some laboratories may offer financial assistance or payment plans to help make the test more affordable.

Symptoms of Spinal Muscular Atrophy

The symptoms of Spinal Muscular Atrophy can vary depending on the severity of the disease. In general, symptoms may include:

• Muscle weakness and atrophy
• Trouble breathing or swallowing
• Poor reflexes
• Floppy or weak muscles
• Difficulty sitting up or walking
• Difficulty with fine motor skills, such as grasping objects or writing

SMA is typically classified into four types based on the age of onset and the severity of symptoms:

• Type 1 - Onset before 6 months of age; severe symptoms, including difficulty breathing and swallowing
• Type 2 - Onset between 6 and 18 months of age; moderate symptoms, including muscle weakness and poor reflexes
• Type 3 - Onset after 18 months of age; mild to moderate symptoms, including muscle weakness and difficulty with fine motor skills
• Type 4 - Onset in adulthood; mild symptoms, including muscle weakness and difficulty with fine motor skills

Diagnosis of Spinal Muscular Atrophy

Diagnosis of Spinal Muscular Atrophy typically involves a combination of genetic testing and clinical evaluation. The Spinal Muscular Atrophy Gene Panel is one of the most accurate tests for detecting the SMN1 gene mutation.

Additional tests may be ordered to evaluate the severity of the disease and to monitor the progression of symptoms. These tests may include:

• Electromyography (EMG) - Measures the electrical activity in muscles
• Nerve conduction studies - Measures how well the nerves that control muscles are functioning
• Pulmonary function tests - Measures how well the lungs are functioning
• X-rays or MRI scans - May be used to evaluate the muscles and bones

If you or a loved one is experiencing symptoms of Spinal Muscular Atrophy, it is important to speak with a healthcare provider. Early diagnosis and treatment can help improve outcomes and quality of life for individuals with SMA.

Conclusion

The Spinal Muscular Atrophy Gene Panel is a valuable tool for diagnosing and evaluating Spinal Muscular Atrophy. While the cost of the test may be a barrier for some patients, it is an important investment in the health and well-being of individuals with SMA. If you have questions about the Spinal Muscular Atrophy Gene Panel or other tests for SMA, speak with a healthcare provider or a genetic counselor.

With early diagnosis and treatment, individuals with Spinal Muscular Atrophy can lead fulfilling lives and achieve their full potential.