Evartia is a new genetic test that detects genetic
mutations (changes) that cause
People with inherited metabolic diseases can have a
range of symptoms, with variable expressivity and
age of onset. Symptoms can manifest shortly after
birth or at infancy, childhood, adolescence or
adulthood. Symptoms can also occur suddenly due to
specific foods or medications, dehydration, illnesses or
other factors. With Evartia, if you have an inherited
metabolic disorder, detecting and managing it early
can prevent or reduce symptoms,
and improve your quality of life.
WHAT ARE INHERITED METABOLIC DISEASES?
Metabolic pathways have pivotal roles in keeping
our bodies healthy. Their many actions include
producing energy and taking the necessary
nutrients from the foods we consume. When a
mutation (genetic change) occurs in a metabolic
pathway, it can lead to either accumulation of
toxic substances in our body, or insufficient
production of required products that keep us
healthy and functional. As a result, metabolic
diseases can affect our health and development,
and cause acute and chronic complications.
Symptoms of inherited metabolic diseases usually
appear shortly after birth. However, depending on
the mutation, the metabolic pathway involved and
the severity of the condition, some people with
inherited metabolic diseases can develop
symptoms in early or late adulthood. There is
great variability in the symptoms and the severity
of symptoms caused by metabolic diseases.
Importantly, adults and children with the same
metabolic disorder may have different symptoms.
In addition, the misconception that metabolic
diseases only affect babies and young children,
leaves many adults suffering from metabolic
diseases unrecognized and undetected.
Symptoms of metabolic diseases include:
Additional symptoms may include vision disturbances, impaired kidney
function, heart problems, abnormal movements, behavioral or learning
issues, distinctive facial features and recurrent infections.
WHO IS Evartia FOR?
Individuals with common symptoms of
a metabolic disease
Individuals with a spectrum of
overlapping symptoms that vary in
age of onset and severity
Individuals with neurological symptoms
that haven’t improved with routine
Individuals with a family history of a
HOW DOES Evartia HELP ME?
Evartia can help you identify:
What disease you have
What is your prognosis
(how the disease
will progress based on the specific
mutation you have)
What is the best treatment and clinical
management for you
What complications you should
be aware of
How it will affect your life
Who in your family should be tested
Who can help you
dieticians, support groups)
WHY ASK MY DOCTOR
Inherited metabolic diseases may be individually rare,
but collectively they are numerous. As they have
variable symptoms, detecting an inherited metabolic
disorder in an individual is not always straightforward.
The usual pathway of identifying a metabolic disease
involves lengthy and complicated biochemical or
enzymatic tests. This may include testing a variety of
specimen types, such as blood, urine, sweat, and even
undergoing invasive brain or muscle tissue biopsy.
Such tests rely on reference intervals which may not
always be suitable for the individual's age, gender or
current state of health – whether they are in the
middle of a metabolic episode or not. Often, they also
require a genetic test to confirm the mutation.
With Evartia, you are one simple, painless and
reliable test away from taking informed and
on the best clinical management for you.
WHY CHOOSE Evartia?
Tests for disease-causing genetic changes that cause serious
Identifies the best therapy for you that can reduce or improve
symptoms and chronic complications
Painless and non-invasive collection method
Reduces the need for lengthy, complicated and invasive procedures
Utilizes superior technology that yields accurate results
WHAT DOES Evartia TEST FOR?
Evartia metabolic test covers the major categories of inherited metabolic
diseases and is offered as a single, detailed panel of 223 genes involved in
Evartia tests for autosomal recessive, autosomal dominant and X-linked
disorders. These may be inherited from carrier parents, who are
unaware of their carrier status, to their children, or without a known or
prior family history of that disorder. Additionally, this means that if you
are affected by a metabolic disease, some of your family members
may also benefit from metabolic testing. Early detection has a higher
potential to reduce symptoms or minimize their severity,
quality of life
of the person with the metabolic disease.
HOW IS Evartia ADMINISTERED?
ASK YOUR DOCTOR ABOUT Evartia
YOUR DOCTOR WILL COLLECT A
SAMPLE USING A BUCCAL SWAB
THE SAMPLE WILL BE SENT TO
THE SAMPLE WILL BE ANALYZED
IN OUR LABORATORY
RESULTS WILL BE SENT TO YOUR
DOCTOR WITHIN 2-4 WEEKS FROM
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Type of personal information NIPD Genetics may collect through its Sites
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