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.