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Genetic Carrier Testing Blood Test

Last updated July 9, 2019

Approved by: Krish Tangella MD, MBA, FCAP

The Genetic Carrier Testing Blood Test identifies in parents several common mutations that are associated with genetic disorders.


What are other Names for this Test? (Equivalent Terms)

  • Carrier Screening
  • Carrier Testing

What is Genetic Carrier Testing Blood Test? (Background Information)

  • The Genetic Carrier Testing Blood Test is performed when parents-to-be wish to assess their risk of passing on a genetic disorder to their children
  • It is possible for a mother and/or father to be carriers of a genetic disorder and not know about the same. This is because we possess two copies of the genetic blueprint; if one copy possesses a mutation, the other copy may still compensate for the defect
  • In the above case, the individual is said to be heterozygous for a genetic mutation i.e., he is a carrier. However, if both copies of the blueprint contain the same mutation, there is no way to compensate and the signs and symptoms of the disorder may be evident. Thus, if both parents are carriers for a disorder, their child may develop the disorder
  • The Genetic Carrier Testing Blood Test identifies in parents several common mutations that are associated with genetic disorders. It provides information valuable to couples who are contemplating on whether or not to have children, especially if there is a family history of genetic disorders

The following genetic disorders may be detected by the Genetic Carrier Testing Blood Test:

  • Cystic fibrosis
  • Spinal muscular atrophy
  • Sickle cell anemia
  • Tay-Sachs disease
  • Alpha-thalassemia and beta-thalassemia
  • Fragile X syndrome

What are the Clinical Indications for performing the Genetic Carrier Testing Blood Test?

The clinical indications for performing the Genetic Carrier Testing Blood Test include a family history of the following genetic disorders:

  • Cystic fibrosis
  • Spinal muscular atrophy
  • Sickle cell anemia
  • Tay-Sachs disease
  • Alpha- and beta-thalassemia
  • Fragile X syndrome

How is the Specimen Collected for Genetic Carrier Testing Blood Test?

Following is the specimen collection process for Genetic Carrier Testing Blood Test:

Sample required: Blood

Process of obtaining blood sample in adults:

  • A band is wrapped around the arm, 3-4 inches above the collection site (superficial vein that lies within the elbow pit)
  • The site is cleaned with 70% alcohol in an outward spiral, away from the zone of needle insertion
  • The needle cap is removed and is held in line with the vein, pulling the skin tight
  • With a small and quick thrust, the vein is penetrated using the needle
  • The required amount of blood sample is collected by pulling the plunger of the syringe out slowly
  • The wrap band is removed, gauze is placed on the collection site, and the needle is removed
  • The blood is immediately transferred into the blood container, which has the appropriate preservative/clot activator/anti-coagulant
  • The syringe and the needle are disposed into the appropriate “sharp container” for safe and hygienic disposal

Preparation required: No special preparation is needed prior to the test.

What is the Significance of the Genetic Carrier Testing Blood Test Result?

Detection of mutations associated with common genetic disorders indicates an increased risk for passing genetic mutations to the children. This means that the parents are carriers for a genetic disorder, which may include:

  • Cystic fibrosis
  • Spinal muscular atrophy
  • Sickle cell anemia
  • Tay-Sachs disease
  • Alpha- and beta-thalassemia
  • Fragile X syndrome

A negative result for the Genetic Carrier Testing Blood Test (or, in other words, when a mutation has not been detected) does not completely rule out the possibility that the parents are still carriers for a genetic disorder.

The laboratory test results are NOT to be interpreted as results of a "stand-alone" test. The test results have to be interpreted after correlating with suitable clinical findings and additional supplemental tests/information. Your healthcare providers will explain the meaning of your tests results, based on the overall clinical scenario.

Additional and Relevant Useful Information:

  • The Genetic Carrier Testing Blood Test only screens for the most common mutations associated with a genetic disorder. It is possible that rare mutations may be present that are undetectable; however, it may still make the individual a carrier
  • Couples who are carriers for a genetic disorder, but who still want to have children, may wish to consider adoption, in vitro fertilization, and other such alternatives

Certain medications that you may be currently taking may influence the outcome of the test. Hence, it is important to inform your healthcare provider of the complete list of medications (including any herbal supplements) you are currently taking. This will help the healthcare provider interpret your test results more accurately and avoid unnecessary chances of a misdiagnosis.

The following DoveMed website link is a useful resource for additional information:

http://www.dovemed.com/common-procedures/procedures-laboratory/cystic-fibrosis-gene-mutation-blood-test/

Please visit our Laboratory Procedures Center for more physician-approved health information:

http://www.dovemed.com/common-procedures/procedures-laboratory/

References and Information Sources used for the Article:


Helpful Peer-Reviewed Medical Articles:


Reviewed and Approved by a member of the DoveMed Editorial Board
First uploaded: March 30, 2016
Last updated: July 9, 2019