Fact Sheets

condition, treatment
Pivotal Response Treatment
For children with autism, anger and other challenges, pivotal response treatment (PRT) builds on principles of earlier behavior modification methods.
condition, procedure, treatment
Whole Exome Sequencing
If you have a health condition that is difficult to diagnose, or a family history of medical problems, your doctor might recommend exome sequencing for additional clues.
procedure
Whole Genome Sequencing
Whole genome sequencing can search a person's entire DNA for genetic variants that may be linked to a disease or condition.
condition, procedure, treatment
Prenatal Screening and Diagnostics
Pregnant and expecting mothers have the opportunity to learn a lot about their unborn child's health with today's screening and diagnostic tests.
condition
Chromosome Mosaicism
Mosaicism is a condition that occurs when a person has two or more genetically separate sets of cells in his or her body.
condition, procedure
Developmental Delay
A child who doesn't develop at the same rate as others of the same age may have a developmental delay; the problem may be present at birth or arise later.
condition
Pemphigus and Pemphigoid
Pemphigus and pemphigoid, both rare autoimmune blistering disorders, can cause blisters on the skin or in membranes such as the mouth, nose and eyes.
condition
Short Stature (Growth Disorders) in Children
Some children who aren't growing as expected are diagnosed with short stature. Here's what parents need to know about this condition.
procedure, treatment
Genetic Evaluation and Counseling
As the cost of genetic sequencing—mapping out an individual’s DNA—has continued to decrease, it has become increasingly available to patients. A medical geneticist or genetic counselor can guide patients and families through the pros and cons of the process and the final results.
condition
Birth Defects
Birth defects are health problems that are present at birth. They can range from mild to severe, and some babies have more than one.