Watch Richard Boles explain typical signs of a large CNV (Copy Number Variants) which are intellectual disability, other neurological defects like seizures and hypotonia, growth anomaly and birth defects, dysmorphic features.
CNVs are found in normal or near-normal parents. They serve as risk factors for disease manifestations including autism. Many times, identification of the exact genes affected can help guide additional studies and therapy.
In the early diagnosis of autism, the child will likely be normal for the first 5 months. Next, the child will show 10 to 15 episodes of regression where the child will stop reacting to touch and sounds, next the child will also have tendencies of vomiting and fatigue. Seizure like tendencies will generally start to develop at the age of 2 years.
Some of the important elements to keep in mind while genetic testing is the reason for testing, alternatives that can be used, the potential on and off-target findings, and cost.
The advantages of trio testing are phasing for recessive variants and following the condition within the family. The negatives can be the cost and the logistics of collection of samples from both parents