Adventia is a new genetic test for carrier screening to determine whether a
phenotypically healthy person is a carrier
of a genetic disease. The genetic insight provided by Adventia can inform,
guide and empower people on their
reproductive choices and minimize the risk of people who are carriers transmitting a genetic disease to
Adventia offers a choice of different panels and testing for up to 229 moderate to severe
autosomal recessive and
X-linked genetic diseases.
Six individual panels for high frequency and severe genetic
Fibrosis, Duchenne Muscular Dystrophy, Fragile X, Spinal Muscular Atrophy.
Single panel that detects 19 genetic diseases recommended by international
genetic organizations like ACMG and ACOG* due
to their high incidence and severity. The Guidelines Based panel includes all
diseases tested in the Focus panels, and
other diseases including Phenylketonuria, Fanconi Anemia Group C and Tay-Sachs disease.
Single panel for 229 diseases that have moderate to severe, well-defined
phenotype and high cumulative frequency. The
Comprehensive panel includes all diseases of the Guidelines Based panel, and covers a wide range
cardiovascular, haematological, muscular, immunological, neurological and pulmonary diseases
Ethnicity-based carrier screening only tests for a very limited number of diseases and may leave
individuals who are
multiracial or unaware of their ethnic or genetic background undiagnosed. While there
are certain diseases that are more
in some populations, due to genetic diversity and migration, an expanded carrier screening test offers
WHY RECOMMEND Adventia Carrier Screening?
Adventia tests for autosomal recessive and X-linked diseases which:
have moderate to severe phenotype
are high in carrier frequency
can compromise quality of life
may be manageable through early interventions
*American College of Medical Genetics and Genomics, American College of Obstetrics and
WHO IS ADVENTIA CARRIER
Couples planning to start
their families and want to know about their carrier status
Any individual or couple going through assisted reproduction,
Sperm and oocyte donors, and recipients of sperm or oocyte donation
Couples who are already pregnant and want to know whether their child
has a risk of having a genetic disease
High-risk population groups for specific diseases
People with a family history of a genetic mutation
Any individual wishing to know more about their genetic background
WHEN SHOULD MY PATIENTS GET
Adventia carrier screening can be done by any individual or couple when they
wish to learn more about their genetic
information to minimize the risk of transmitting
a genetic disease to their children. Adventia can also be done during pregnancy
if prospective parents wish to know
whether their child has a risk of having a genetic disease.
ROBUST TECHNOLOGICAL DESIGN
Adventia carrier screening is based on a novel, target capture enrichment technology that has
been thoroughly validated
for its accuracy and precision.
Adventia screens for all coding regions on the genes of interest, increasing
chances of identifying any pathogenic
or likely pathogenic mutations: single nucleotide variants, small insertions and deletions, and
Innovative bioinformatics pipelines analyze the sequencing data produced from each sample,
and specificity of Adventia carrier screening.
WHAT DOES THE REPORT LOOK LIKE?
POSITIVE OR NEGATIVE RESULTS ON MUTATIONS TESTED
THOROUGH INTERPRETATION AND SIGNIFICANCE OF POSITIVE MUTATIONS IDENTIFIED
WHAT CAN I DO AFTER Adventia CARRIER
Depending on the results, the disease, and whether the test was performed by an individual wanting to
know more about
their genetic profile or a couple planning their family, there are multiple choices you can recommend to
Genetic counseling to receive more information on the potential impact of the disease, and discuss
their choices on
how to minimize the risk of transmitting the disease to their children
Having prenatal diagnosis during pregnancy, if they wish to know whether their baby is affected or
Choosing in-vitro fertilization (IVF) and preimplantation genetic testing (PGT-M) if they want to
make sure their
baby will not have the affected phenotype
Choosing a compatible gamete donor without the same mutation
Early intervention, therapies where available and better clinical management for affected children
Adventia CARRIER SCREENING
Genetic insight about patient’s carrier status
Testing for moderate to severe diseases which can severely affect quality of life, health and
Minimize transmission of genetic diseases to offspring
Comprehensive report with meaningful results
Short turn-around time
Safe and easy to perform
WHY OFFER CARRIER SCREENING TO MY PATIENTS?
Anyone can be a carrier of recessive mutations and pass them to the next generation without their
knowledge. A recessive
disease manifests only when a child inherits a pathogenic mutation from both parents. Without carrier
asymptomatic carriers of recessive mutations often discover their carrier status only after they have an
Knowledge of an individual’s genetic profile can help them understand their risk of transmitting a
to their children, and evaluate their reproductive options to prevent that risk.
Genetic diseases may be rare with varying prevalence but can have adverse effects on health and
development, or be
Early knowledge about diseases that can be clinically manageable, like metabolic
disorders, can result in earlier
intervention, therapies where available and better clinical management for affected children.
International genetic organizations like the American College of Obstetricians and Gynecologists
(ACOG), and the
American College of Medical Genetics and Genomics (ACMG) recommend that carrier screening for the
most serious and
prevalent genetic diseases is offered to everyone planning to start a family. Several professional
the National Society of Genetic Counselors (NSGC), Perinatal Quality Foundation and Society for
(SMFM) also agree that carrier screening information should be provided to all pregnant women.
1 in 45
1 in 25
1 in 28
Spinal muscular atrophy
1 in 35
1 in 4 people is a carrier of a genetic disease Lazarin et al., 2013
HOW TO ADMINISTER
Adventia CARRIER SCREENING?
DISCUSS Adventia WITH YOUR PATIENT
COLLECT A CHEEK SWAB FROM YOUR PATIENT
SEND THE SAMPLE TO OUR LABORATORY
THE SAMPLE WILL BE ANALYZED
IN OUR LABORATORY
RESULTS WILL BE SENT TO YOU WITHIN 2-3 WEEKS
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