Horizon Screening.
Carrier Screening · 200+ Conditions · Preconception & Pregnancy
A preconception and prenatal carrier screening panel covering 200+ recessive genetic conditions including Cystic Fibrosis, Spinal Muscular Atrophy, Fragile X, and Tay-Sachs. Single blood draw, results in 2 to 3 weeks, reviewed with our board-certified physician team for family planning decisions.
What is Horizon carrier screening?
What This Screening Detects.
Horizon screens for over 200 inherited recessive and X-linked conditions. The panel covers conditions universally recommended by ACOG and ACMG plus expanded categories that historically were limited to specific ancestries.
Natera Horizon · by the numbers.
Horizon is the carrier screening panel from Natera, a genetics laboratory that processes more than two million reproductive-health tests annually. Performance and panel data come from Natera’s published technical documentation.
Carrier rates are higher than most expect.
Most carriers are entirely healthy and have no family history. Routine screening is the only way to know your status before a child is conceived. Approximate population carrier frequencies for the most clinically common conditions on the Horizon panel:
Cystic Fibrosis (CFTR)
~1 in 25 (Northern European) · ~1 in 24 (Ashkenazi Jewish) · ~1 in 65 (African American)
The most common life-shortening recessive condition in people of European descent.
Spinal Muscular Atrophy (SMN1)
~1 in 50 (general U.S. population)
SMA is the leading genetic cause of infant mortality — now treatable when identified at birth, but prevention via carrier screening remains the gold standard.
Fragile X (FMR1)
~1 in 150 women carry a premutation
Leading inherited cause of intellectual disability and autism — only the maternal partner is screened.
Tay-Sachs (HEXA)
~1 in 27 (Ashkenazi Jewish, French Canadian, Cajun) · ~1 in 250 (general)
Severe neurodegenerative disorder of infancy — carrier screening reduced incidence by >90% in target populations.
Sickle Cell Disease (HBB)
~1 in 13 (African American)
The most common single-gene disorder in the United States.
Beta Thalassemia (HBB)
Elevated in Mediterranean, Middle Eastern, South Asian ancestry
A spectrum of severity — combined with sickle-cell variants, can produce severe disease.
A 25% chance — and a real plan.
When both reproductive partners carry a pathogenic variant in the same recessive gene, each pregnancy has a 25% chance of being affected. That number is real — and so are the options. Our physicians refer to maternal-fetal medicine and reproductive endocrinology specialists when warranted.
Preconception Path
If you screen before pregnancy, options include in-vitro fertilization with preimplantation genetic testing for monogenic disorders (IVF with PGT-M), donor gametes, adoption, or proceeding naturally with prenatal diagnosis.
Prenatal Path
If you screen during pregnancy, diagnostic options include chorionic villus sampling (CVS) at 10–13 weeks or amniocentesis at 15–20 weeks to test the fetus directly.
Informed Preparation
Many couples choose to continue the pregnancy with full knowledge — arranging delivery at a tertiary center, lining up specialists, and preparing the home for an affected child’s needs.
Cascade Testing
Siblings of carriers have a 50% chance of also being carriers. A positive result is genetic information your entire family can use.
Guideline alignment: The American College of Obstetricians and Gynecologists (ACOG) and the American College of Medical Genetics (ACMG) both recommend that expanded carrier screening be offered to all patients planning pregnancy or in early pregnancy, regardless of ancestry or family history. Horizon meets and exceeds those guidelines.
How It Works.
From consult to action plan, every step is physician-led.
Who Should Consider.
Carrier screening is recommended for the following groups:
Why TrufaMED for Horizon Carrier Screening.
Why patients choose TrufaMED for Horizon carrier screening:
200+ recessive conditions screened from a single blood draw.
Pricing & Coverage.
Insurance: Most major insurance plans cover Horizon carrier screening when ordered preconception or during pregnancy. Coverage is typically routine and our team verifies benefits in advance.
Self-pay: Self-pay options are available. Call (305) 537-6396 for current pricing.
What is included: Physician consult, test order, blood draw, lab analysis, results review visit, and partner testing coordination if carrier status is identified.
Physician-Led.
Every order, interpretation, and follow-up is delivered by a board-certified MD.
Visit Us in Surfside, FL.
Surfside, FL 33154
Frequently Asked Questions.
When should we get carrier screening — before or during pregnancy?
Ideally before. Preconception testing gives you the maximum range of reproductive options if both partners are identified as carriers, including IVF with PGT-M, donor gametes, or prenatal diagnosis. If you are already pregnant, screening is best completed in the first trimester.
Does insurance cover Horizon carrier screening?
Most major insurance plans cover carrier screening when ordered preconception or during pregnancy. Our team verifies benefits before any blood is drawn. Self-pay is an option for uncovered patients.
What happens if both partners are carriers of the same condition?
If both partners carry the same recessive mutation, each pregnancy has a 25% chance of producing an affected child. Reproductive options include IVF with PGT-M (testing embryos before transfer), donor gametes, prenatal diagnosis (CVS or amniocentesis), or natural conception with informed acceptance of risk. We discuss every option in detail.
How is this different from a basic 3-gene panel offered elsewhere?
Older minimum panels test only Cystic Fibrosis, SMA, and hemoglobinopathies. Horizon screens for 200+ conditions, identifying carriers for many recessive disorders that would otherwise be missed until an affected child is born.
Can egg or sperm donors use this test?
Yes. Comprehensive carrier screening is standard practice for gamete donors and is typically required by fertility clinics.
Does my ancestry change which panel I should get?
Modern guidance favors a pan-ethnic expanded carrier screening panel for all patients regardless of ancestry, because partner ancestry may differ and self-reported ancestry can be incomplete. Horizon is pan-ethnic by design.
When in pregnancy is it too late to be tested?
It is never too late to gain information, but earlier is better. After the second trimester, prenatal diagnostic options narrow. We can still screen later in pregnancy to inform delivery planning and newborn care.
What is PGT-M and when is it indicated?
PGT-M is preimplantation genetic testing for monogenic disorders — embryos created via IVF are biopsied and tested before transfer, so only unaffected embryos are implanted. It is the most reliable way to avoid passing a known recessive condition to a child when both partners are carriers.
Is the test a blood draw or saliva?
Blood draw, performed by a licensed provider during your in-clinic visit at TrufaMED Surfside.
What if my partner cannot come in?
Sequential testing is acceptable. We test the lower-cost partner first and only test the second partner for conditions where the first was identified as a carrier. This is also possible via mail-in for partners outside South Florida.
How is my genetic data protected?
Natera is HIPAA-compliant and does not share identifiable data with third parties without consent. Federal law (GINA) prevents health insurance and employment discrimination based on genetic information. GINA does not extend to life, disability, or long-term care insurance, which we discuss with you before testing.
Will carrier status affect my own health?
For autosomal recessive conditions, carrier status almost never affects your personal health — only reproductive risk. For some X-linked conditions (Fragile X premutation, Duchenne carrier status), there can be personal health implications, which we discuss when relevant.
Other TrufaMED Services.
Ready to get started?
Speak with a TrufaMED physician about whether horizon carrier screening is appropriate for you.
