Biomarker
A measurable substance in blood or tissue that signals a disease or tracks its activity over time.
Biopsy
Removing a small tissue sample to examine under a microscope.
Bone marrow biopsy
Removing a small sample of marrow to examine the blood-forming cells.
Complete blood count (CBC)
A common blood test counting red cells, white cells, and platelets.
CT scan
Computed tomography — cross-sectional X-ray images of the body.
DEXA scan
A low-dose X-ray that measures bone density (used for osteoporosis and bone disease).
Echocardiogram
An ultrasound of the heart to assess its structure and function.
EEG
Electroencephalogram — records the brain’s electrical activity (e.g., to evaluate seizures).
EMG
Electromyography — measures the electrical activity of muscles and nerves.
Enzyme assay
A blood test that measures the activity of a specific enzyme; low activity can confirm an enzyme-deficiency disease.
Genetic testing
Analysis of DNA to find changes (variants/mutations) in a gene that cause a condition.
Karyotype
A picture of all the chromosomes, used to detect extra, missing, or rearranged pieces.
Lumbar puncture
A "spinal tap" that samples the fluid around the brain and spinal cord.
Metabolic panel
Blood tests of body chemistry — electrolytes, kidney and liver function.
MRI
Magnetic resonance imaging — detailed images of organs, bones, and the brain, using no radiation.
Newborn screening
A panel of tests done at birth to catch certain rare and genetic conditions early.
Next-generation sequencing (NGS)
High-throughput DNA sequencing; includes whole-exome (WES) and whole-genome (WGS) sequencing.
Whole-exome sequencing (WES)
Sequences the protein-coding parts of the genome to find disease-causing variants.
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