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Research > Genetics
Chromosomal Microarray vs. Whole Genome Sequencing: Which Genetic Test Is Right for Your Child?
...conditions like 22q11.2 deletion syndrome or Angelman syndrome when a child has autism, developmental delays, or unexplained intellectual disability. Whole exome sequencing (WES) reads the protein-coding portions of your child's genome, about 1-2% of the total. It's good at finding point mutations (single-letter...
Special Needs > Rare Disorders
Ending the Diagnostic Odyssey: How Whole Genome Sequencing Is Changing Rare Disease Diagnosis
...genetic variants that targeted gene panels and exome sequencing miss. Until recently, most specialists...not just the protein-coding regions (exons) that exome sequencing covers. About 98% of your genome doesn't...disease-causing variants hide in those regulatory regions. Exome sequencing might miss them. WGS catches them. The...
Parenting > Diagnosis
Genetic Testing for Developmental Delays: What the New AAP Guidelines Mean for Your Family
...Pediatrics updated its guidance on genetic testing for children with global developmental delay and intellectual disability. The change makes whole exome sequencing or whole genome sequencing the first-tier recommendation, not a later step if other tests fail. That's a shift, and it means parents are...
Research > Genetics
Gene Studies Attempt to Solve Autism Mystery
...mothers to pass on these mutations; this research points to an answer as to why older parents have an increased risk of having a child with autism. The exome, or the part of genes that codes for proteins, is the piece responsible for this risk of autism. According to the gene studies, these mutations could...