MELAS Mutation Detection Test Cost & Procedure

The analysis of mitochondrial mutations connected to the mitochondrial illness MELAS is helped by this test. The majority of the time, symptoms start in childhood and can include vomiting, seizures, loss of appetite, headaches that come and go, and muscle weakness and pain. Because only females give mitochondrial DNA to their offspring, MELAS can be inherited from the mother.

Describe MELAS:

MELAS syndrome, which stands for mitochondrial encephalopathy, lactic acidosis, and stroke-like events, is an uncommon condition that typically manifests between the ages of two and fifteen and mostly affects the neurological system and muscles. Seizures, frequent headaches, appetite loss, and recurrent vomiting are the most prevalent early symptoms.

Hemiparesis, a condition similar to a stroke that causes temporary muscle weakness on one side of the body, can cause altered states of consciousness, vision and hearing loss, loss of motor abilities, and intellectual incapacity. MELAS is brought on by mitochondrial DNA mutations, and in one patient, POLG1 nuclear gene alterations have been linked to this condition. )

Why is this examination suggested?

• Check for mitochondrial disorders caused by sequence variations in the mitochondrial genome (mtDNA), especially in people who have the clinical symptoms of a particular disorder, such as Leber hereditary optic neuropathy (LHON), mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS), myoclonic epilepsy with ragged-red fibres (MERRF), and neurogenic weakness with ataxia and retinitis pigmentosa. (NARP) Diagnosis
• Physical examination, medical history, and a study of the patient's symptoms are frequently used to diagnose MELAS.
• Genetic testing is the only approach to definitively diagnose MELAS. Imaging, muscle biopsies, or lactic acid measurements in the muscles may be used as clinical diagnostics to assist in the diagnosis of the illness.

The medical staff might benefit from imaging procedures like magnetic resonance imaging (MRI) to gain a better understanding of what is happening inside the body. Additionally, a muscle biopsy might be done.

The medical staff will perform a biopsy by using a needle to take a small sample of tissue, which they will then examine under a microscope. Rough red fibres will be visible in the biopsy tissue if the patient has MELAS.