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Women's Health

UNITY Screen

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.

Overview

1 in 40 people are carriers of spinal muscular atrophy

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.

Source: Keinath MC, Prior DE, Prior TW. Spinal Muscular Atrophy: Mutations, Testing, and Clinical Relevance. Appl Clin Genet. 2021 Jan 25;14:11-25. doi: 10.2147/TACG.S239603. PMID: 33531827; PMCID: PMC7846873

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.

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.

When Should You Consider This Test?

Consider this test in the following cases:

Women aged 35 or older at delivery
(as advanced maternal age increases the risk of chromosomal abnormalities such as Down syndrome)
History of chromosomal abnormalities in previous pregnancies
Parents who are carriers of genetic diseases
Abnormal results in initial screening tests
Medical indication based on family history
Cases of multiple pregnancies

Genes Analyzed

The panel includes:

18

Genes

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.

Methodology

The methodology used for this test is as follows:

PREPARATION:

Blood: No fasting required.

TURNAROUND TIME:

Up to 10 calendar days.

REQUIRED DOCUMENTS:

Medical request.

Sample:

Blood
Type Description
Technique Next-Generation Sequencing (NGS)
Accuracy 99.4%

How to Request the Test?

Auxiliary Documents

Report Model
Contact Our Customer Services
Exatus Gene will send a collection kit and provide instructions for sample collection
We will retrieve the collected sample and send it to the laboratory for analysis
The report will be made available through the SysGene Portal and sent to your email