Infano test
Many congenital diseases give no clinical symptoms in the initial weeks, months, or even years of a child’s life. Some may result in serious intellectual development disorders, other may reveal themselves suddenly at some point, threatening a child’s well-being or life.
With a single genetic test, INFANO, you can increase your child’s chance for early detection of diseases, and early prevention or treatment.
The INFANO test detects selected diseases of genetic origin. The list of diseases covered by the test is restricted to those where prevention or therapy can halt their development or prevent complications.
What is the INFANO test:
The Genomed team and associated experts developed a preventive diagnostic panel for genetic conditions whose symptoms may occur early and affect infants and babies.
Using state-of-the-art technology, namely Next-Generation Sequencing (NGS), the INFANO test detects over 70 diseases that may seriously threat your child’s well-being or life, but show no symptoms in the initial months of their life. As a result, many children can avoid serious complications resulting from late diagnosis.
The test is non-invasive as it only requires a tiny saliva sample (in the case of newborns it can be an umbilical cord blood sample). There is no additional stress related to testing your child.
The test is intended for:
- Newborns,
- Babies and children who display ambiguous symptoms.
The INFANO is a genetic test for which you need a doctor’s referral, according to Polish law. The decision to take the test can be made before or after a child is born.
The INFANO test is:
- Child-friendly
- Safe
- Quick
- Precise
- Modern
- Comprehensive
THE INFANO TEST COVERS:
- Metabolic diseases that result from disorders in biochemical processing of proteins, fats, carbohydrates, vitamins, and other nutrients,
- Neurological diseases (such as spiral muscular atrophy, pyridoxine-dependent epilepsy, and tuberous sclerosis complex),
- Immunodeficiencies characterised by suppressed immunity or no immunity to bacteria, viruses, and parasites.
- Blood diseases (such as haemophilias),
- Eye diseases,
- Other diseases that can be successfully prevented or treated, such as cystic fibrosis and malignant hyperthermia.
The test also covers the genes defined by the American College of Medical Genetics and Genomics (ACMG) as essential to well-being and life that are responsible for:
a. Childhood cancers,
b. Cardiovascular disorder predispositions.
The INFANO test options:
The early intervention panel covers 141 genes and 78 diseases:
If the parents request it and pay an additional fee, analysis can be extended to include frequent diseases that can be treated and it is essential to start treatment early, but cannot be identified by NGS, such as adrenal hyperplasia. Such analyses are performed using MLPA (Multiplex Ligation-dependent Probe Amplification).
The test is recommended:
- As newborn screening – to parents who take prevention seriously and wish to manage their children’s health responsibly;
- If there have been genetic diseases or diseases of unknown origin in the family;
- If there have been sudden deaths of children for unknown reasons in the family;
- If the result of a standard (biochemical) newborn screening test is positive or ambiguous.
How is the test performed:
The INFANO is a genetic test for which you need a doctor’s referral, according to Polish law. Therefore, it should start with a medical consultation with a clinical geneticist, paediatrician, gynaecologist, or a neonatologist (it can be done on-line). During the consultation, the parents select the test options. They also need to sign a declaration of informed consent to the test.
WE WILL NEED:
- Oral cavity swab, taken using a kit dedicated to infants and babies;
or - Saliva - a child needs to spit into a test tube. The kit is recommended to children over 5 years;
or - Venous blood (or umbilical cord blood), collected into an EDTA tube.
The kit contains documents (Request with a declaration of informed consent to INFANO preventive test) and a swab stick. You can bring the sample collected using the kit to a consultation or send it to us. Samples can be taken by medical personnel, a midwife, a nurse, or the parents (in the case of saliva or oral cavity swab).
The samples are sent to our Warsaw lab to be analysed.
The final report is issued up to eight weeks from the date when our lab receives the sample. If the risk of a disease which must be prevented or treated immediately is detected at an early stage of testing, you will receive such information immediately, even before the full diagnostic report is prepared.
We send the test report according to the request, i.e. to the parents or to the referring centre. If the test result is positive (incorrect), you will need to discuss it with a doctor from our genetic counselling centre. You can visit us in Warsaw or visit one of our associated centres in your city.
(does not include optional MLPA testing)
Visit the INFANO test website: www.infanotest.pl
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