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About the Test

An autosomal recessive disorder called biotinidase deficiency is brought on by mutations in the biotinidase gene. The age of onset and clinical phenotype vary according to the level of biotinidase activity that is still present. One in 61000 people have both a profound and partial biotinidase deficiency. In the general population, the carrier frequency is 1 in 120. The diagnosis of biotinidase deficiency is made with this assay. Additionally, it is helpful for subsequent testing for a few organic acidurias.

FAQs

What are blood tests?

Blood tests are used to measure or examine cells, chemicals, proteins, or other substances in the blood. Blood testing, also known as blood work, is one of the most common types of lab tests. Blood work is often included as part of a regular checkup.

What are the uses of blood tests?

Blood tests are used to:
Help diagnose certain diseases and conditions
Monitor a chronic disease or condition, such as diabetes or high cholesterol
Find out if treatment for a disease is working
Check how well your organs are working. Your organs include your liver, kidneys, heart, and thyroid.
Help diagnose bleeding or clotting disorders
Find out if your immune system is having trouble fighting infections

What happens during a blood test?

A health care provider will need to take a sample of your blood. This is also called a blood draw. When a blood draw is taken from a vein, it's known as venipuncture; It is the most common type of blood collection.

What beforehand preparations need to be done for the test?

Most blood tests do not require any special preparations. For some tests like lipid or glucose tests you may need to fast (not eat or drink anything except water) for around 8 to 12 hours. Your doctor will provide all the instructions, in case any special instructions are to be followed before the test.

Are there any associated risks with a blood test?

"There is very minimal risk with having a finger prick test or venipuncture. During venipuncture, you may have slight pain or bruising at the spot where the needle was put in, but most symptoms go away quickly.
Collecting blood from an artery is more painful than collecting from a vein, but complications are rare. You may have some bleeding, bruising, or soreness at the spot where the needle was put in. Also, you should avoid lifting heavy objects for 24 hours after the test."

What else do I need to know about blood test?

"Blood testing provides important information about your health; however, it does not always give sufficient information about your condition. If you had a blood work, you may need other types of tests before your doctor can make a definitive diagnosis."

Biotinidase - Quantitative

HEALTHCARE PATHOLOGY

Biotinidase - Quantitative

DETAILS

FAQs

Health Packages

Apolipoproteins Profile

Contains 2 tests

Thyroid Profile

Contains 3 tests

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