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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
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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
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Exceptional coverage for known disease-causing variants using up-to-date databases
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Copy number variant analysis performed for most genes
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Enhanced SMA screening to help identify silent carriers
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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