- allele
- amplification
- anomaly
- autosomal dominant inheritance
- autosomal recessive inheritance
- autosome
- biochemical genetic testing
- birth defect
- carrier testing
- centromere
- chromosomal microarray analysis
- chromosome
- codon
- complex traits
- congenital
- congenital anomaly
- cytogenetics
- deletion
- de novo
- diagnostic testing
- direct DNA studies
- DNA
- dominant
- duplication
- enzyme replacement therapy (ERT)
- epigenetics
- extended banding chromosome study
- familial
- first-degree relative
- fluorescence in situ hybridization (FISH)
- folic acid
- gene
- gene therapy
- genetic
- genetic counseling
- Geneticist
- genetic predisposition
- Genetics
- genotype
- germline DNA
- heritable
- heterozygous
- Human Genome Project
- inborn error of metabolism
- inconclusive result
- indirect DNA studies
- inheritance
- inversion
- isolated
- karyotype
- late or variable onset
- markers
- meiosis
- Mendel, Gregor
- Mendelian Inheritance
- metabolism
- missense mutation/variant
- mitochondrial inheritance
- mitosis
- mode of inheritance
- monosomy
- mosaicism
- multifactor inheritance
- multiple gene panel test
- multiplex genomic test
- mutation analysis
- mutations
- negative predictive value (NPV)
- newborn screening
- nondisjunction
- non-heritable
- nonsense mutation/variant
- novel mutation/variant
- nutrigenomics
- open neural tube defects (ONTDs)
- p arm
- pathognomonic
- pedigree
- phenotype
- preconception visit
- predictive genetic testing
- preimplantation studies
- prenatal diagnosis
- presymptomatic genetic testing
- probability
- punnett square
- q arm
- recessive
- recurrence risk
- ring chromosome
- risk assessment
- screening
- second-degree relative
- sensitivity
- sex chromosomes
- sexual reproduction
- sibling
- somatic variant
- susceptibility gene mutation
- syndrome
- third-degree relative
- threshold
- trait
- translocation
- trinucleotide repeats
- trisomy
- unclassified variant
- uniparental disomy
- variable expression
- variant
- variant of uncertain/unknown significance
- vitamin therapy
- whole exome sequencing (WES or WXS)
- whole genome sequencing (WGS)
- x-linked inheritance
- y-linked inheritance
Glossary