The UNITY Screen test by BillionToOne is a prenatal screening test that uses a blood sample from the mother to assess the risk of the fetus developing severe recessive genetic conditions, such as cystic fibrosis, sickle cell anemia, thalassemias, and spinal muscular atrophy (SMA). This test utilizes cell-free DNA (cfDNA) found in maternal blood to provide insights into the fetus’s genetics.
Children with the most common form of SMA have access to genetic therapy to improve their quality and lifespan. Treatment can begin shortly after birth.
1 in 10 African Americans are carriers of sickle cell disease
In the general population, sickle cell disease is more common than Down syndrome. Early diagnosis allows for referral to a specialized clinic.
Source: www.hematology.org
1 in 20 people are carriers of alpha-thalassemia worldwide.
Major alpha-thalassemia usually results in stillbirth, and intervention with genetic therapy is available based on research.
Source: rarediseases.org
Consider this test in the following cases:
The panel includes:
Sequencing of all exons, exon-intron junctions, and selected intronic regions of the CFTR, HBA1, HBA2, and HBB genes. Copy number analysis is also performed for the CFTR, SMN1, HBA1, HBA2, and HBB genes. This includes all CFTR variants recommended by the American College of Medical Genetics (ACMG), all common HBB variants, including HbS, HbC, HbE, IVS1-1, and 41/42-TTCT, the Constant Spring variant of HBA2, and the SMN1 silent carrier SNP g.27134T>G (rs143838139) when two copies of SMN1 are present. Alpha-thalassemia carrier screening also reports deletions of one or two genes, including alpha3.7, alpha4.2, SEA, MED-I, SA, 20.5, BRIT, FIL, or THAI.
The methodology used for this test is as follows:
Blood: No fasting required.
Up to 10 calendar days.
Medical request.
Type | Description |
Technique | Next-Generation Sequencing (NGS) |
Accuracy | 99.4% |
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