Short Description

NGS genetic DNA test detecets for variant and mutation detection in ARSA gene for Metachromatic Leukodystrophy

PreTest Information

Clinical History of Patient who is going for ARSA Gene Metachromatic Leukodystrophy NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Metachromatic Leukodystrophy

Detail Description

ARSA Gene Metachromatic Leukodystrophy NGS Genetic DNA Test

Metachromatic leukodystrophy (MLD) is a genetic disorder that affects the nervous system. It is caused by a deficiency of an enzyme called arylsulfatase A (ARSA) that breaks down a type of fat called sulfatides. As a result, sulfatides build up in the brain and nervous system, causing damage to the myelin sheath that surrounds and protects nerve fibers.

MLD is an autosomal recessive disorder, meaning that a person must inherit two copies of the mutated gene (one from each parent) to develop the condition. The ARSA gene is located on chromosome 22q13.33.

Symptoms

The symptoms of MLD can vary depending on the age of onset and the severity of the disease. In general, the symptoms progress over time and can include:

• Delayed developmental milestones
• Loss of previously acquired skills
• Difficulty walking
• Muscle weakness and stiffness
• Seizures
• Vision loss
• Behavioral changes
• Dementia

There are three forms of MLD: late infantile, juvenile, and adult onset. The late infantile form is the most common and typically begins between 6 months and 2 years of age. The juvenile form begins between 3 and 16 years of age, and the adult onset form can begin anytime after age 16.

Diagnosis

MLD can be diagnosed through a variety of methods, including:

• Physical exam and medical history
• Neurological exam
• MRI or CT scan of the brain
• Nerve conduction studies
• Genetic testing

Genetic testing is the most definitive method of diagnosis and can identify mutations in the ARSA gene. Next-generation sequencing (NGS) is a powerful tool for genetic testing and can analyze multiple genes simultaneously. NGS can also detect rare and novel mutations that may be missed by other methods.

ARSA Gene Metachromatic Leukodystrophy NGS Genetic DNA Test Cost

The cost of the ARSA Gene Metachromatic Leukodystrophy NGS Genetic DNA Test in India is INR 20,000. This test is available at DNA Labs India, a leading provider of genetic testing services in the country.

Conclusion

Metachromatic leukodystrophy is a rare but devastating genetic disorder that affects the nervous system. Early diagnosis is important for effective management and treatment. The ARSA Gene Metachromatic Leukodystrophy NGS Genetic DNA Test is a reliable and cost-effective method of diagnosis that can help families get the answers they need.

If you suspect that you or a loved one may be affected by MLD, contact DNA Labs India today to schedule a test.