Fact Sheets

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, 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
Molecular Diagnostics
Molecular diagnostics involves analyzing DNA or RNA for red flags that can pinpoint the potential emergence of a specific disease.
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
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.
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.
condition
Muscular Dystrophy
Muscular dystrophy includes 30+ distinct disorders that impair the building and restoring muscle, causing weakness and muscle control problems.
condition
Familial hypercholesterolemia
Familial hypercholesterolemia (FH) is an inheritable genetic disorder that causes high cholesterol.
condition
Surgery for Cleft Lip and Palate
Cleft lip and cleft palate occur when tissues in the lips and/or the roof of the mouth fail to properly join during fetal development.