Aryl Sulphatase A Metachromatic Leukodystrophy Test

This test measures the levels of Aryl Sulphatase A enzyme in the blood to diagnose Metachromatic Leukodystrophy (MLD).

• To diagnose MLD, a rare genetic disorder
• To evaluate disease progression, plan treatment, and provide genetic counselling to families at risk for MLD

This test is recommended for

• individuals with symptoms suggestive of MLD such as delayed development, muscle weakness, poor coordination, and seizures,
• individuals with a family history of MLD, and
• patients with clinical suspicion of MLD based on other diagnostic findings.

Abnormally low levels may suggest a diagnosis of MLD.

During this test, a healthcare professional will clean the area and insert a needle to draw blood. They will send your blood sample to the laboratory for analysis.

• Inform your doctor about any medications or supplements you are taking, as certain medications can affect the test results. Also, tell them if you have any specific requirements.
• Your doctor may provide additional instructions based on your individual situation.

• Genetic Testing: To identify specific genetic mutations associated with MLD
• Nerve Conduction Studies: To evaluate nerve function and assess any peripheral nerve involvement in MLD

Arylsulphatase A Test or Arylsulphatase A Activity Assay

Metachromatic Leukodystrophy (MLD) is a rare genetic disorder characterised by the accumulation of sulphatides in the nervous system. It leads to progressive loss of motor skills, muscle weakness, impaired cognitive function, and visual disturbances.

The Arylsulphatase-A Test is a diagnostic tool that measures the activity of the arylsulphatase An enzyme in your body. This enzyme is crucial for breaking down certain lipids called sulfatides. The test is primarily used to diagnose and monitor a genetic disorder called metachromatic leukodystrophy (MLD).

Metropolis Healthcare offers a convenient solution for individuals who prefer to get tested without visiting a clinic. With their lab services, a trained phlebotomist comes to your doorstep to collect blood samples, ensuring comfort and safety while maintaining high standards of sample handling and testing accuracy.

Normal levels for the Arylsulphatase-A Test are typically above or equal to 62 nmol/h/mg. Values below this threshold may indicate reduced enzyme activity, which could be a sign of metachromatic leukodystrophy (MLD) or other related conditions.

The Arylsulphatase-A Test is primarily used to diagnose and monitor metachromatic leukodystrophy (MLD), a genetic disorder that affects the nervous system. It can also help rule out other sulfatase deficiencies that may present with similar symptoms.

The frequency of Arylsulphatase-A Testing depends on your clinical needs. It is usually performed when symptoms suggestive of MLD are present or for follow-up monitoring in individuals already diagnosed with the condition. Your doctor will advise you on the appropriate testing schedule.

There is no specific time requirement for the Arylsulphatase-A Test. It can be performed at any time of the day, as long as the sample is handled properly and reaches the laboratory within the specified timeframe (usually within 48 hours of collection).

No, fasting is not necessary before undergoing the Arylsulphatase-A Test. You can eat and drink as usual prior to the blood sample collection. However, it's always best to follow any specific instructions provided by your healthcare provider.

Before getting an Arylsulphatase-A Test, ensure you have all the necessary medical information and inform your doctor about any medications you're taking or recent surgeries you've had. The blood sample must be handled and transported correctly to avoid contamination or degradation.

The primary parameter measured in the Arylsulphatase-A Test is the activity of the arylsulphatase An enzyme in your white blood cells (leukocytes). This activity is typically reported in units of nmol/h/mg (nanomoles per hour per milligram of protein).

The Arylsulphatase-A Test should be performed when there is a clinical suspicion of metachromatic leukodystrophy (MLD) based on symptoms or family history. It may also be done for monitoring purposes in individuals already diagnosed with MLD.

The blood collection process for the Arylsulphatase-A Test is relatively quick and usually takes only a few minutes. However, the overall processing and analysis of the sample may take several days, typically ranging from 8 to 15 days.

The reports for the Arylsulphatase-A Test are usually available after 10 days based on the day/time the sample is collected and processed. The exact turnaround time may vary depending on the diagnostic center and their workload.