Short Description

Spinal Muscular Atrophy screening [Prenatal] is performed using MLPA methodology. Sample that have to be given is Amniotic fluid / Chorionic villi / Cord blood in Sterile container / Sterile Normal Saline Container / EDTA Vacutainer (2ml) for this test. You can expect results in 7-10 days

PreTest Information

Spinal Muscular Atrophy screening [Prenatal] 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 Screening (Prenatal): Cost, Symptoms, and Diagnosis

Spinal Muscular Atrophy (SMA) is a genetic disorder that affects the nervous system and leads to muscle weakness and atrophy. It is caused by a mutation in the SMN1 gene, which is responsible for producing a protein that is essential for the survival of motor neurons. There are four types of SMA, and the severity of the disorder varies depending on the type.

Symptoms of Spinal Muscular Atrophy

The symptoms of SMA vary depending on the type of SMA and the age of onset. The most common symptoms include:

• Weakness in the muscles
• Poor muscle tone
• Difficulty in breathing and swallowing
• Tremors
• Joint contractures
• Scoliosis

Diagnosis of Spinal Muscular Atrophy

The diagnosis of SMA involves a combination of clinical examination, genetic testing, and imaging studies. The clinical examination includes a review of the patient's medical history and a physical examination. The genetic testing involves analyzing the SMN1 gene for mutations. The imaging studies may include X-rays and MRI scans to assess the extent of muscle weakness and atrophy.

Spinal Muscular Atrophy Screening (Prenatal)

Prenatal screening for SMA involves testing the fetus for the presence of the SMN1 gene mutation. This can be done using chorionic villus sampling (CVS) or amniocentesis. CVS involves taking a sample of the placenta, while amniocentesis involves taking a sample of the amniotic fluid. Both procedures carry a slight risk of miscarriage.

Cost of Spinal Muscular Atrophy Screening (Prenatal)

The cost of prenatal screening for SMA in India is approximately INR 11,250. This cost may vary depending on the location and the healthcare provider.

Conclusion

Spinal Muscular Atrophy is a genetic disorder that affects the nervous system and leads to muscle weakness and atrophy. Prenatal screening for SMA involves testing the fetus for the presence of the SMN1 gene mutation using chorionic villus sampling (CVS) or amniocentesis. The cost of prenatal screening for SMA in India is approximately INR 11,250. If you suspect that you or your child may have SMA, it is important to consult a healthcare provider for diagnosis and treatment.

If you are interested in prenatal screening for SMA or other genetic disorders, DNA Labs India offers a range of genetic testing services. Contact us today to learn more.