Short Description

Leigh syndrome is a heterogenous neurologic disorder due to damage in mitochondrial energy production that usually starts in early childhood. There is progressive encephalopathy with episodic neuro-degeneration, ataxia, dystonia, nystagmus and vision loss. Rarely it arises in adults.

PreTest Information

Duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory.

Detail Description

LEIGH SYNDROME MITOCHONDRIAL MUTATION DETECTION Test

Leigh syndrome is a rare genetic disorder that affects the central nervous system. It is caused by mutations in mitochondrial DNA, which is responsible for producing energy in our cells. The symptoms of Leigh syndrome can vary widely, but often include developmental delays, movement disorders, muscle weakness, and breathing difficulties.

The diagnosis of Leigh syndrome can be challenging, as the symptoms can be similar to those of other disorders. However, one of the most effective ways to diagnose Leigh syndrome is through genetic testing. DNA Labs India offers a Leigh Syndrome Mitochondrial Mutation Detection Test, which can identify mutations in mitochondrial DNA that are associated with Leigh syndrome.

Test Cost

The cost of the Leigh Syndrome Mitochondrial Mutation Detection Test at DNA Labs India is INR 7500. This is a competitive price for a test that can provide valuable information about a rare and potentially debilitating disorder.

Symptoms

The symptoms of Leigh syndrome can vary widely from person to person. However, some common symptoms include:

• Developmental delays
• Movement disorders
• Muscle weakness
• Breathing difficulties
• Seizures
• Vision and hearing problems

It is important to note that not everyone with Leigh syndrome will experience all of these symptoms, and some may have additional symptoms not listed here.

Diagnosis

Diagnosing Leigh syndrome can be challenging, as the symptoms can be similar to those of other disorders. However, genetic testing is one of the most effective ways to diagnose Leigh syndrome. The Leigh Syndrome Mitochondrial Mutation Detection Test offered by DNA Labs India can identify mutations in mitochondrial DNA that are associated with Leigh syndrome. This can help confirm a diagnosis and provide valuable information about the specific genetic mutations involved.

Overall, the Leigh Syndrome Mitochondrial Mutation Detection Test offered by DNA Labs India is a valuable tool for diagnosing Leigh syndrome and understanding the specific genetic mutations involved. With a competitive cost of INR 7500, this test is accessible to those who may be affected by this rare disorder.

If you suspect that you or a loved one may have Leigh syndrome, it is important to talk to a healthcare professional and consider genetic testing.