a
- affected individual
- allele
- autosomal dominant
- autosomal recessive
b
- biopsy
c
- carrier
- cascade genetic testing
- cell
- chaperone therapy
- chromosome
- clinical trial
- congenital
- CRISPR
- cytogenetics
d
- de novo mutation
e
- enzyme
- enzyme replacement therapy
- epigenetics
- exome
f
- familial cancer syndrome
- family history
- first-degree relative
- Food and Drug Administration
u
- US Food and Drug Administration
- U.S. Food and Drug Administration
f
- FDA
- founder mutation
g
- gene
- gene sequencing
- gene therapy
- genetic counseling
- genetic counselor
- genetic disease
- genetic disorder
- genetic condition
- genetic predisposition
- genetic testing
- genome
- genotype
h
- hereditary
i
- incomplete penetrance
- informed consent
- inheritance
l
- late onset
v
- variable onset
m
- mitochondria
- mitochondrial DNA
- mitochondrial inheritance
- multifactorial Inheritance
- mutation
n
- newborn screening
p
- penetrance
- pharmacogenetics
- phenotype
- polymorphonuclear leukocytes
l
- LCL
p
- presymptomatic testing
- proteins
r
- rare disease
- RNA interference therapies
- RNAi
s
- second-degree relative
- stem cell therapy
v
- variable expression
- variant of uncertain significance
- VUS
w
- white blood cell
- whole-exome sequencing
- whole-genome sequencing
x
- x-linked dominant
- x-linked inheritance
- x-linked recessive
