Cytogenetic Testing
What type of testing should be ordered for patients who present with developmental delay, Autism, and/or seizures?
Microarray
What are some pros and cons of ordering gene panel testing?
Pros: can test multiple genes at once, good if multiple genes associated with a condition or if clinical features suggestive of more than one condition
Cons: May be more expensive, more likely to get VUS results, could have incidental findings
Organic Acid Disorders and Urea Cycle Disorders
What are some indications to order Fragile X Testing?
Intellectual disabilities, developmental delay, speech/language delay, Autism, learning disabilities of unknown cause; Females with infertility, premature ovarian failure
What are the two genetic conditions methylation testing is often ordered for?
Angelman Syndrome and Prader Willi Syndrome