Carrier screening is used to identify couples who are at risk of passing inherited disorders to their children. The severe, prevalent and actionable diseases on our panel have been selected by clinical experts and can be reported with >99% accuracy. About the diseases:
Some of the diseases on the Family Prep Screen have standard recommended treatment, like Wilson disease and PKU.
Some result in intellectual disabilities, as with fragile X syndrome and Niemann-Pick disease.
Others are chronic and require lifelong management, like cystic fibrosis and Bloom syndrome.
Finally, some of the diseases have no treatments available, like spinal muscular atrophy and Canavan disease.
The information presented is meant as a quick reference to diseases screened by Counsyl and is not meant to be a comprehensive guide. Individual diseases can have widely varying phenotypes not captured here.
The Family Prep Screen uses full-exon sequencing to detect more at-risk couples than targeted genotyping. This enables you to detect more couples of all ethnicities who are at-risk for passing on inherited disorders to their children.
In 2015, five medical societies (ACOG, ACMG, NSGC, PQF and SMFM) published a joint statement on the value of expanded carrier screening.1 In their paper, they state that there are distinct advantages to offering carrier screening for the same set of diseases to all patients, including:
The Family Prep Screen simplifies your practice by providing universal coverage for patients of all ethnicities, including Caucasian, Ashkenazi Jewish, Black, Hispanic, East Asian and South Asian.
Traditionally, limited carrier screening has been offered to patients based on their ethnic background or family history.
More than 80% of babies born with inherited genetic diseases have no known family history.2
Though individually rare, we’ve found that the diseases on the Family Prep Screen are collectively more common than Trisomy 21 (Down syndrome) or neural tube defects which are routinely screened for during pregnancy.3
Offering the Family Prep Screen to your patients before or early in pregnancy allows you to provide more coverage and improve health outcomes.
Since launching in 2009 with the world’s first expanded carrier screen, we have published extensive data on the changing landscape of testing and genetic counseling.
Recent publications on the value of expanded carrier screening include:
The Counsyl platform delivers education, guidance and support for clinicians and patients at every step of the testing process.
We take the burden of billing of your hands. We work directly with patients to determine their coverage with insurance and provide upfront cost estimates. As an in-network lab, Counsyl is typically covered and will go towards patient deductibles.
Affordable payment options are available for patients who lack adequate coverage.
We partner with you to enable broader screening. Results are available online so you can quickly review and release to patients. Post-test education and on-demand access to a board-certified genetic counselor is included for all patients to ensure results are understood.
Every step is customizable and we document every interaction in detail so you can have full visibility of these communications.
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References:1. Edwards et al. Expanded Carrier Screening in Reproductive Medicine--Points to Consider. A Joint Statement of the American College of Medical Genetics and Genomics, American College of Obstetricians and Gynecologists, National Society of Genetic Counselors, Perinatal Quality Foundation, and Society for Maternal-Fetal Medicine. Obstetrics and Gynecology. 2015; 125(3). 2. Blythe and Farrell. Advances in the Diagnosis and Management of Cystic Fibrosis. Clinical Biochemistry. 1984. 3. Haque et al. Expanded carrier screening of 322,484 individuals: the case for going beyond cystic fibrosis. Eur S Hum Genet. 2015; 23:S1