Genetics

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Genetic conditions, including single gene disorders, chromosome abnormalities, and other genetic factors, are estimated to account for up to 50% of all cases of infertility in male and females.

 

Genetic testing is currently recommended for males with low sperm count, women with primary ovarian insufficiency, and couples with recurrent pregnancy loss. 


Carrier screening is important to identify couples at risk to have a child with a genetic condition. Some carriers can have infertility and may be at risk to have a child with symptoms of a genetic condition if their partner is also a carrier. Carrier screening is currently recommended for all patients who are pregnant or planning a pregnancy.

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Carrier screening empowers patients to make informed decisions

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New Guidance from the American College of Medical Genetics (ACMG)

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Carrier screening protocols should be ethnic and population neutral

Populations have become more diverse, which makes relying on self-identification of ethnicity flawed. Reports have shown that carriers are often identified outside of the traditional at-risk groups. An ethnic-neutral approach is more inclusive of diverse populations.
 

ACMG establishes a new tier-based system for disorder selection

ACMG has standardized the criteria for disorder inclusion by developing a tiered approach based on disorder severity and known carrier frequency. This practical framework allows for uniformity across testing laboratories and promotes equity in screening.
 

ACMG recommends Tier 3 carrier screening

ACMG recommends all pregnant patients and those planning a pregnancy be offered Tier 3 carrier screening for autosomal recessive and X-linked disorders. Disorders included have a carrier frequency of ≥ 1 in 200. Since carrier frequencies are not uniform across populations, ACMG uses a maximum carrier frequency to include populations where carriers are more common.

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Unilab Carrier Test

At a Glance

The Unilab Carrier Test is designed to detect common and known rare genetic variants in a diverse population using a chromosomal microarray analysis.

The Unilab Carrier Test Includes

  • Exceptional coverage for known disease-causing variants using up-to-date databases 

  • Copy number variant analysis performed for most genes

  • Enhanced SMA screening to help identify silent carriers

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Disorders Tested

For a list of disorders tested, download the disorder list.*

Thoughtful Design Guided by New ACMG Recommendations

Unilab Carrier Test is Customizable

If one of the Unilab Carrier Tests does not meet the needs of your practice, we can customize a panel for you with over 600 disorders to choose from.

 

*Not all ACMG recommended genes are included with the Unilab Carrier Test. Some ACMG genes include variants that are not routinely detected by NGS or microarray only.

References
1. Cariati, F., D'Argenio, V., & Tomaiuolo, R. (2019). The evolving role of genetic tests in reproductive medicine. Journal of translational medicine, 17(1), 267. https://doi.org/10.1186/s12967-019-2019-8
2. Practice Committee of American Society for Reproductive Medicine in collaboration with Society for Male Reproduction and Urology (2008). Evaluation of the azoospermic male. Fertility and sterility, 90(5 Suppl), S74–S77. https://doi.org/10.1016/j.fertnstert.2008.08.092
3. Committee opinion no. 605: primary ovarian insufficiency in adolescents and young women. (2014; reaffirmed in 2020). Obstetrics and gynecology, 124(1), 193–197. https://doi.org/10.1097/01.AOG.0000451757.51964.98
4. Practice Committee of the American Society for Reproductive Medicine (2012). Evaluation and treatment of recurrent pregnancy loss: a committee opinion. Fertility and sterility, 98(5), 1103–1111. https://doi.org/10.1016/j.fertnstert.2012.06.048
5. Committee Opinion No. 691: Carrier Screening for Genetic Conditions. (2017). Obstetrics and gynecology, 129(3), e41–e55. https://doi.org/10.1097/AOG.0000000000001952

6. ACMG Practice Resource: Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG). Genetics in Medicine.2021

7. Westemeyer, M. et al. Clinical experience with carrier screening in a general population: support for a comprehensive pan-ethnic approach. Genet. Med. 22, 1320–1328 (2020). 4.     

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