Arylsulfatase A measurement

This test measures the amount of an enzyme called arylsulfatase A in certain body fluids. It is used to help diagnose metachromatic leukodystrophy (a genetic disorder that progressively affects nerves, muscles, and other organs). A sample of amniotic fluid, blood, urine, or other body fluids or tissues may be collected for this test.

Laboratory tests may be done for many reasons. Tests are performed for routine health screenings or if a disease or toxicity is suspected. Lab tests may be used to determine if a medical condition is improving or worsening. Lab tests may also be used to measure the success or failure of a medication or treatment plan. Lab tests may be ordered for professional or legal reasons. You may need this test if you have:

• Metachromatic leukodystrophy

Amniotic fluid:

An amniocentesis is a procedure that requires your written consent. Review the consent form with the healthcare worker and ask any questions that you have before signing the consent form. Tell the person doing the amniocentesis if you have a history of pregnancy difficulties, such as premature (early) labor, incompetent cervix (a weak or failing cervix), placenta previa (a placenta that is abnormally low, near or over the cervix), abruptio placentae (the placenta is separated from the uterine wall too early), and if you are Rh negative (had a blood type that did not match your child's blood type). Tell the healthcare worker if you have a medical condition or are using a medication or supplement that causes excessive bleeding. You should also report if you have a history of allergic or other reactions to local anesthetics. If ultrasound is used, you will need to drink extra fluids and have a full bladder for the procedure.

Blood:

Before having blood collected, tell the person drawing your blood if you are allergic to latex. Tell the healthcare worker if you have a medical condition or are using a medication or supplement that causes excessive bleeding. Also tell the healthcare worker if you have felt nauseated, lightheaded, or have fainted while having blood drawn in the past.

Urine:

To prepare for giving a urine sample, be sure to drink enough fluids before the test, unless you have been given other instructions. Try not to empty your bladder before the test.

Other body fluid or tissue samples:

A different sample other than the samples listed above may be used for this test. Ask your healthcare worker for information about how to prepare for this test. If you have questions or concerns about the preparation for this test, talk to the healthcare worker.

A sample of amniotic fluid, blood, urine, or another body fluid or tissue may be collected for this test.

Amniotic fluid:

Amniotic fluid is the protective liquid that surrounds the unborn baby while it is in the mother’s womb. A sample of this fluid is collected by a procedure called an amniocentesis. For an amniocentesis, you will lie on your back with your legs extended. You may be asked to raise your arms above your head. Usually, an ultrasound will be done at the same time as the amniocentesis. The ultrasound is used to locate your unborn baby, the placenta, and a pocket of amniotic fluid that is suitable for testing. The point selected for needle insertion will be away from your baby and the placenta.

An area of skin on your abdomen will be cleaned with an antiseptic solution, and a sterile area prepared. You will be given anesthetic to numb your skin. When the area is numb, a needle will be introduced through your skin and into the amniotic sac (the protective sac that surrounds the unborn baby). Using ultrasound as a guide for needle placement, a small amount of amniotic fluid will be withdrawn and thrown away, and then the sample of fluid will be collected.

When enough fluid has been collected, the needle will be withdrawn. More than one needle and syringe may be needed to collect the sample. If your unborn baby moves toward the needle during the procedure, the needle will be withdrawn and the procedure may need to be repeated.

Blood:

When a blood sample from a vein is needed, a vein in your arm is usually selected. A tourniquet (large rubber strap) may be secured above the vein. The skin over the vein will be cleaned, and a needle will be inserted. You will be asked to hold very still while your blood is collected. Blood will be collected into one or more tubes, and the tourniquet will be removed. When enough blood has been collected, the healthcare worker will take the needle out.

Urine:

To provide a sample of urine, you will be asked to urinate into a container. Fill the container as much as you can, but do not overfill it. Urine samples may also be taken from a catheter.

Other body fluid or tissue samples:

A different sample other than the samples listed above may be used for this test. Methods used to collect other body fluids or tissue samples may vary. Ask the healthcare worker to explain how this sample may be collected. If you have questions or concerns about this test, talk to the healthcare worker.

The amount of discomfort you feel will depend on many factors, including your sensitivity to pain. Communicate how you are feeling with the person doing the test. Inform the person doing the test if you feel that you cannot continue with the test.

Amniotic Fluid:

Before an amniocentesis, a local anesthetic is given to the procedure site to numb the area. You may feel mild discomfort or stinging when the numbing medicine is injected. As the procedure needle is inserted through the abdomen, you may feel some discomfort and pressure. You may feel mild cramping in your abdomen and pelvic area during the procedure. The procedure site may be sore for several days.

Blood:

During a blood draw, you may feel mild discomfort at the location where the blood sample is being collected.

Urine:

This test usually causes no discomfort.

Other body fluid or tissue samples:

A different sample other than the samples listed above may be used for this test. This test may feel different depending on many factors, including the sample needed and how it is collected. Ask the healthcare worker what to expect during this test.

Amniotic fluid:

After an amniocentesis, a bandage will be placed over the site, and pressure applied until the bleeding or drainage has stopped. Rest is necessary. Do not have sexual intercourse, and avoid heavy lifting for at least 24 hours after the procedure.

Contact your healthcare worker if there is redness, swelling, pus, drainage, or pain at the site where the amniotic fluid sample was taken. Alert your healthcare worker immediately if you see bleeding or clear fluid leaking from your vagina, feel severe cramping in your abdominal or pelvic area, or develop a fever. Inform healthcare workers of any change in your baby's movement, such as not moving for a period of time, or suddenly moving more than usual after this procedure.

Blood:

After a blood sample is collected from your vein, a bandage, cotton ball, or gauze may be placed on the area where the needle was inserted. You may be asked to apply pressure to the area. Avoid strenuous exercise immediately after your blood draw. Contact your healthcare worker if you feel pain or see redness, swelling, or discharge from the puncture site.

Urine:

After collecting a urine sample, close the container if it has a lid. Place the container where the healthcare worker asked you to put it. Clean your hands with soap and water.

Other body fluid or tissue samples:

A different sample other than the samples listed above may be used for this test. Instructions for what to do after a collection of other body fluid or tissue samples may vary. Ask the healthcare worker to instruct you on what to expect after this test is completed. If you have questions or concerns about what to expect after the test is completed, talk to the healthcare worker.

You have the right to help plan your care. To help with this plan, you must learn about your health condition and how it may be treated. You can then discuss treatment options with your caregivers. Work with them to decide what care may be used to treat you. You always have the right to refuse treatment.