Genetic Testing
This is something you must obtain from the patient or guardian prior to ordering any genetic test.
What is written informed consent?
Edwards syndrome is the common name for this aneuploidy.
This is the term for a skin fold of the upper eyelid covering the inner corner of the eye
What are epicanthal folds?
This is the gene for cystic fibrosis
What is CFTR?
____ replacement therapy is the name for regular infusions used to treat metabolic disorders
What is enzyme replacement therapy?
This test is the broadest and most comprehensive genetic test offered in the clinical setting, and is our first-line test for most inpatient consults.
What is genome sequencing?
This genetic condition can cause hypotonia and poor feeding in infancy, followed by hyperphagia, obesity, and intellectual disability in childhood/adulthood.
What is Prader-Willi syndrome?
This is the medical term for a small jaw/chin
What is micrognathia?
This is one of the more common genes that increases risk for breast cancer, pancreatic cancer, and ovarian cancer
What is BRCA1/BRCA2?
What is Trikafta?
This genetic test looks for copy number variants, such as deletions and duplications.
What is a chromosomal microarray?
This genetic condition can cause hemihypertrophy, umbilical hernia, neonatal hypoglycemia, and increased risk for embryonal tumors such as hepatoblastoma and Wilms tumor.
What is Beckwith-Wiedemann syndrome?
This is the term for when a finger curves sideways or inward
What is clinodactyly?
This is the gene for Duchene and Becker muscular dystrophy, and is also the longest gene in humans
What is DMD?
This is the DNA-editing technology that revolutionized research into gene therapies
What is CRISPR?
This test looks at the number and structure of chromosomes and is useful for diagnosing aneuploidy and chromosomal rearrangements.
What is a karyotype?
This skeletal dysplasia causes marked bone fragility, blue sclera, short stature, and scoliosis.
What is osteogenesis imperfecta?
This is the term for eyes that are widely spaced
What is hypertelorism?
This is the gene for Sickle Cell Disease
What is HBB?
This vehicle/carrier is the most commonly used to deliver new genetic material to cells in a process known as gene therapy.
What is a viral vector?
Also known as EpiSign, this newer genetic test analyzes gene signatures which turn genes "on" and "off".
What is methylation testing?
This genetic condition is characterized by short stature, congenital heart defects (typically affecting the pulmonary valves), cardiomyopathy, scoliosis, lymphedema, variable neurodevelopmental involvement, clotting issues, and is part of the RASopathy family.
What is Noonan syndrome?
This is the medical term for "unibrow", or hair connecting the two eyebrows
What is synophrys?
This tumor suppressor gene is mutated in about 1/2 of all cancers
What is TP53?
This is what ASO stands for (short piece of synthetic DNA administered to patients that have diverse modes of action, used to treat genetic disorders)
What is anti-sense oligonucleotide?