Buccal smear
What is a Buccal Smear?
A buccal smear, also known as a buccal cell smear, is a sample of cells taken from the inside of a person’s mouth to test for genetic conditions such as Down syndrome or other chromosomal abnormalities. The sample is collected using a cotton swab or brush and analyzed in a laboratory to identify the genetic markers associated with the specific condition.
Purpose of a Buccal Smear
A buccal smear is used for a variety of reasons, such as:
- Screening pregnant women for genetic abnormalities or to identify the veracity of paternity claims
- Evaluating newborns for genetic disorders
- Diagnosing genetic diseases in adults or children
How to do Buccal Smears?
The process of collecting a buccal smear is a simple one for healthcare professionals. Here are the steps for taking a buccal smear:
- using a clean cotton swab or brush, the inside of the mouth is swabbed against the inside of the cheek to collect cells.
- The swab is placed into a labeled plastic tube and sealed for delivery.
- The tube is sent to a laboratory for analysis.
Types of Buccal Smear Analysis
The type of buccal smear test a person will receive depends on the condition being evaluated. Some of the common types of buccal smear tests include:
- Amniocentesis – used to screen pregnant women for genetic abnormalities.
- Chorionic Villus Sampling – used to detect genetic abnormalities in a developing fetus.
- Cellulose Buccal Smear – used to detect genetic mutations in an individual.
- Karyotyping – used to identify chromosomal abnormalities.
Risks Associated with Buccal Smear Test
Buccal smear tests are generally considered to be safe. Possible risks associated with the procedure include:
- Bleeding or soreness in the mouth
- Swallowing some of the cells collected
- Infection
When is a Buccal Smear Test Required?
A buccal smear test is usually recommended when an individual or family display certain symptoms or has a family history of certain genetic conditions. A person may need to get a buccal smear test to diagnose or determine the risk of developing certain conditions, including:
- Down Syndrome
- Fragile X Syndrome
- Cystic Fibrosis
- Sickle Cell Anemia
- Tay–Sachs Disease
- Hemophilia
- Huntington’s Disease
- Gaucher Disease
- Thalassemia
Why is a Buccal Smear Test Necessary?
A buccal smear test is a quick and easy way to collect and analyze cells from a person’s mouth, and results can usually be returned to a healthcare provider in a matter of days. It is also non-invasive and much less expensive than other forms of genetic testing. By having this type of test, it can help healthcare professionals detect or diagnose various genetic disorders.