Hodigen Services

Carrier

Genetic Carrier Screening

  1. Indication for testing:
    1. Carrier screening determines whether an individual carries a change, or mutation, in one of their genes and if they are at increased risk of having a child affected with a genetic disease. Genetic screening tests can detect carriers for an inherited condition, even though a woman and her partner do not have a family history of the condition. Carrier screening is typically performed for recessive genetic diseases, or those in which both parents must be carriers to have an affected child.
    2. Everyone carries mutations in genes, and in general, carriers have no symptoms or signs of the disease they carry. It is important to note that you can be a carrier of a genetic disease even if you already have healthy children.
  1. Carrier screening involves collection of a buccal swab from one or both parents and can be performed when you are planning pregnancy or after you have become pregnant.
  1. Genes analyzed:
    ABCD1, ABCD4, ACAD8, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACSF3, ADA, AHCY, ARG1, ASL, ASPA, ASS1, AUH, BCKDHA, BCKDHB, BLM, BTD, C4B, CBS, CD320, CPT1A, CPT2, CYP21A1P, CYP21A2, DBT, DLD, DNAJC19, DUOX2, ETFA, ETFB, ETFDH, FAH, FANCC, G6PC, G6PD, GAA, GALC, GALE, GALK1, GALT, GBA, GBAP1, GCDH, GCH1, GJB2, GJB3, GJB6, GLA, GNMT, HADH, HADHA, HADHB, HBA1, HBA2, HBB, HCFC1, HEXA, HLCS, HMGCL, HPD, HSD17B10, IDUA, IKBKAP, IL2RG, IVD, LMBRD1, MAT1A, MCCC1, MCCC2, MCEE, MCOLN1, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MTHFR, MTR, MTRR, MUT, NM, NPC1, NPC2, OPA3, OTC, PAH, PAX8, PCBD1, PCCA, PCCB, PTS, QDPR, SLC22A5, SLC25A13, SLC25A20, SLC26A4, SLC5A5, SMN1, SMN1, SMPD1, TAT, TAZ, TCN2
How to send samples to the lab?
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The benefits of genetic testing

Knowing your genetic makeup can help your doctor determine the best next steps for you.

Treatment

Results may direct your doctor to therapies that may be more likely to work for you, including specific types of surgeries, chemotherapies, or targeted treatments.
In some cases, they can also qualify you for clinical trials.

Future Health

Results may suggest how likely it is that you’ll develop another cancer in the future, so you can be proactive and consider with your doctor risk-reducing surgery, medicines that can prevent cancer from developing (“chemoprevention”), or increased screenings going forward.

Family members

Discovering that you have a genetic mutation means that your family members may also be at risk.
They can get tested too and, if they also have the genetic change, can get more frequent cancer screenings so they can act early, when treatment is most effective.

Genetic testing may have significant medical, financial, and psychological implications. If you’re going to have a genetic test for cancer, you should work with genetic counselors before the tests so you understand all the ways genetic testing for cancer may affect you and your family.