AUTISM SPECTRUM DISORDER
Why get tested?
The test, which is performed in subjects with a clinical diagnosis of Autism Spectrum Disorders, is indicated by the specialist in order to identify the cause of these disorders.
What the test detects
The test allows you to identify small sequence variants (single nucleotide changes, insertions / deletions of a few base pairs) and some large rearrangements (deletions or duplications) of extensive gene or chromosomal portions, present in the entire genome.
How testing works
The test consists in taking a blood sample, in the extraction of genomic DNA and in the sequencing of the entire genome using NGS technology.
What will be reported
In the report there will be only: variants already described in SFARI Gene database in association with Autism Spectrum Disorders or variants of possible pathogenetic significance not present in SFARI Gene database, but affecting genes already reported in association with Autism Spectrum Disorders in the same database are evaluated.
Results in 4 months.
Sensitivity and specificity
Analytical Sensitivity and Specificity > 99%.