hnl genomics

Carrier Screening

HNL Genomics

Genetic carrier screening can detect >99% of inherited pathogenic variants in the genes tested and provides your patients with important information that will help them make critical life plans. 

Our testing offers highly targeted single genes and gene panels, providing your patients with:

  • 2 Week Turnaround Time
  • Full Gene Sequencing
  • Pan-Ethic Testing
  • Relevant and actionable results
  • Billing and financial assistance
For more details on carrier screening at HNL Genomics, please see our provider and patient brochures.

Note: Carrier Screening is a screening test; it does not provide a diagnosis.


Additional Resources

Frequently Asked Questions

Carrier screening is a genetic test that can inform you about whether you carry a DNA change (variant or mutation) that has the potential to cause a genetic disorder in your child. Typically, if you are a carrier of a DNA change, you are likely to be in good health and not exhibit any symptoms associated with the genetic disorder you carry.

If an individual carries a DNA change, their children may be susceptible to developing a genetic disorder. The majority of genetic disorders targeted by carrier screening are recessive, although a few are X-linked. For a child to be at risk of inheriting a recessive genetic disorder, both parents must be carriers of the same recessive genetic disorder. In the case of a woman being a carrier of an X-linked genetic disorder, each pregnancy carries a potential risk of up to 1 in 2 (50%) chance of being affected by the X-linked genetic disorder.

If both parents are carriers of the same autosomal recessive condition, there is a 1 in 4 (25%) chance of having an affected child in each pregnancy. Being aware of your carrier status can aid you and your physician in making informed decisions regarding pregnancy planning.

Anyone can be a carrier of a recessive or X-linked genetic condition, including healthy individuals with no family history of a genetic disorder.

We understand the importance of screening your partner to assess the risk of recessive genetic disorders in your children. In the event of a positive result, HNL Lab Medicine will conduct carrier screening for the same genetic disorder in your reproductive partner with no additional charges. If you qualify for free carrier screening, your report will indicate your eligibility.

It is important to discuss your health concerns with your doctor, especially if you have a family history of a specific genetic disorder. Your doctor may refer you to a genetic counselor to assess your family history and determine if additional genetic testing is necessary.

It is best to do carrier screening before getting pregnant, but it can also be done during pregnancy if needed. Finding out your carrier status before pregnancy helps you make informed decisions about the best reproductive options for you, including whether to consider advanced reproductive technologies.

Once you and your doctor decide on which carrier screening tests to pursue, your doctor will place an order for these tests. You can then go to any HNL Lab Medicine Patient Service Center to have your blood drawn. Results for carrier screening are available within 7-14 days and can be accessed on, the HNL Lab Medicine patient portal.

The American College of Obstetricians and Gynecologists (ACOG) recommends offering carrier screening for cystic fibrosis and spinal muscular atrophy to all individuals who are pregnant or planning to become pregnant. Additionally, carrier screening for Fragile X syndrome should be offered to women with a personal or family history of Fragile X-related disorders, intellectual disability, unexplained ovarian insufficiency, or an elevated FSH level before age 40. ACOG also advises offering screening for specific blood conditions, such as alpha thalassemia, beta thalassemia, and sickle cell anemia, to individuals at increased risk based on their ancestry.

HNL Lab Medicine offers carrier screening for 46 recessive and X-linked genetic disorders. Some of the most common conditions include cystic fibrosis, spinal muscular atrophy, Fragile X, and sickle cell disease.