Genetic testing for autism - a chance to find out the cause of the disorder
It is estimated that in 25-35% of children with autism spectrum symptoms, a specific cause of disorders related to changes in the genetic material can be identified.
Every child with symptoms from the autism spectrum, Asperger's syndrome or with intellectual disorders, in addition to neurological and psychiatric consultation, should also be subject to genetic consultation.
Why is it so important? Because the detection of the genetic cause of disorders in an autistic child allows parents and doctors to take care of its further development in the best possible way.
What does modern genetic testing of autism do for?
the opportunity to gain some knowledge of what kind of disorder we are really dealing with,
the possibility of carrying out a very wide so-called differential diagnosis. This means checking many potential genetic causes of disorders in one analysis. This is a huge time-saver and means you get treatment quickly.
avoiding the so-called diagnostic procedure - that is, the need to perform many tests that exclude further suspicions,
a chance to introduce effective treatment and individually selected therapy,
a chance to predict the further progress of the child's development,
estimating the risk of falling ill in the closest family members.
Make an appointment now - to the attending geneticist in our hospital
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What genetic testing for autism can be done?
"AUTISM MAX" test PACKAGE
- the widest package of tests for detecting the genetic causes of autism on the market. Contains:
The WES (Whole Exome Sequencing) study, i.e. the analysis of all known coding regions of human genes (about 23,000 genes) in the direction of changes that may cause autistic symptoms, Asperger's syndrome or intellectual development disorders. The WES test is the most modern and the most comprehensive genetic test that can be performed in a simple way for the patient.
+ CNV lesions (microdeletions and microduplications within the examined exome). This range is similar to the microarray test.
+ FRAX test (fragile X chromosome - screening to detect repeat expansion (CGG) n in the FMR1 gene) - IN THE PACKAGE FOR FREE!
The 'Autism MAX' test package is a check of, inter alia, the following genetic causes of autism:
brittle X chromosome,
microdeletions and microduplications on chromosomes,
metabolic diseases (including phenylketonuria, homocystinuria),
Rett syndrome,
tuberous sclerosis,
Sotos syndrome,
Cowden syndrome,
Smith Lemli and Opitz syndrome,
Joubert's syndrome,
Timothy's team,
DiGeorge syndrome,
Williams and Beuren syndrome,
Cri Du Chat Team,
Charge team,
and hundreds of other genes associated with intellectual disorders.
What else is included in the 'AUTYZM MAX' package?
changes in genes of uncertain pathogenicity are reported, the so-called 'VUS' - i.e. very rare changes,
if the patient agrees, he / she may receive information about changes in genes posing a risk of diseases not related to the symptoms (e.g. a tendency to elevated cholesterol levels, elevated iron or copper levels, and hundreds of others),
it is possible to update the result with the latest medical reports in the future,
result in a maximum of 10 weeks!
venous blood is the test sample - we organize a sample collection at the patient's home or at a nearby clinic
price: PLN 5,870
"BASIC AUTISM" PANEL
The "BASIC AUTISM PANEL" study is a panel of 224 selected genes which, according to the latest scientific reports, may be responsible for the symptoms of the autism spectrum. The test is performed using the NGS (next generation sequencing) technology.
the test result is issued in a maximum of 10 weeks!
venous blood is the test sample - we organize a sample collection at the patient's home or at a nearby clinic
price: 3 887 PLN
MICROMARIA TESTING (MOLECULAR CARIOTYPE)
This study analyzes microdeletions and microduplications at the chromosome level, including the high sensitivity of 227 genes related to symptoms of autism and intellectual disorders. Method of execution: aCGH for microarrays.
The patient receives the test result in a maximum of 6 weeks!
venous blood is the test sample - we organize a sample collection at the patient's home or at a nearby clinic
price: 2 600 PLN
