Short Description

NGS genetic DNA test detecets for variant and mutation detection in ATP7A gene for Spinal muscular atrophy, distal, X-linked

PreTest Information

Clinical History of Patient who is going for ATP7A Gene Spinal muscular atrophy, distal, X-linked NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with ATP7A Gene Spinal muscular atrophy, distal, X-linked

Detail Description

ATP7A Gene Spinal Muscular Atrophy, Distal, X-linked NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Spinal muscular atrophy (SMA) is a group of genetic disorders that affect the muscles responsible for movement. It is caused by a mutation in the survival motor neuron 1 (SMN1) gene, which results in a deficiency of the SMN protein. However, there are other genes that can also cause SMA, such as the ATP7A gene.

The ATP7A gene is located on the X chromosome and provides instructions for making a protein that helps to transport copper ions out of cells. Copper is important for the proper functioning of many enzymes, including those involved in the production of myelin, the protective coating around nerve cells. Mutations in the ATP7A gene can lead to a copper deficiency, which can cause a form of SMA known as distal X-linked SMA.

Symptoms of ATP7A Gene Spinal Muscular Atrophy

The symptoms of ATP7A gene spinal muscular atrophy can vary depending on the severity of the condition. In general, individuals with this type of SMA experience muscle weakness and wasting, particularly in the hands and feet. Other symptoms may include:

• Trouble walking or standing
• Difficulty with fine motor skills, such as writing or buttoning clothes
• Difficulty swallowing or breathing
• Scoliosis

Diagnosis of ATP7A Gene Spinal Muscular Atrophy

Diagnosis of ATP7A gene spinal muscular atrophy is typically done through genetic testing. This can involve a variety of tests, including:

• NGS Genetic DNA Test
• PCR (polymerase chain reaction)
• Western blot

Genetic testing can identify mutations in the ATP7A gene and confirm a diagnosis of distal X-linked SMA. It can also help to identify carriers of the condition, which can be important for family planning.

Cost of ATP7A Gene Spinal Muscular Atrophy NGS Genetic DNA Test

The cost of the ATP7A gene spinal muscular atrophy NGS genetic DNA test is INR 20,000. This test is performed by DNA Labs India, a leading provider of genetic testing services in India. The test is performed using next-generation sequencing (NGS) technology, which allows for the rapid and accurate analysis of DNA sequences.

Conclusion

ATP7A gene spinal muscular atrophy is a rare form of SMA that is caused by mutations in the ATP7A gene. This condition can cause muscle weakness and wasting, particularly in the hands and feet. Diagnosis is typically done through genetic testing, which can identify mutations in the ATP7A gene. The cost of the ATP7A gene spinal muscular atrophy NGS genetic DNA test is INR 20,000, and it is performed by DNA Labs India.

If you suspect that you or a family member may have ATP7A gene spinal muscular atrophy, it is important to speak with a healthcare provider and consider genetic testing. Early diagnosis and treatment can help to manage symptoms and improve quality of life.

For more information on genetic testing services offered by DNA Labs India, please visit their website.