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Genomics in general practice


AD Alzheimer’s disease
AGHDR Australian Genetic Heart Disease Registry
ASD autism spectrum disorder
CA 125 cancer antigen 125
CAH congenital adrenal hyperplasia
CBAVD  congenital bilateral absence of the vas deferens
CF cystic fibrosis
cfDNA cell-free fetal DNA
CFTS combined first trimester screening
CMA       chromosomal microarray
CNV copy number variant
COC combined oral contraceptive
CPTID carnitine palmitoyl transferase I deficiency
CPVT catecholaminergic polymorphic ventricular tachycardia
CRC colorectal cancer
CVD cardiovascular disease
CVS chorionic villus sampling
CYP cytochrome P450 enzyme
DD developmental delay
DLCNC Dutch Lipid Clinic Network Criteria
DNA deoxyribonucleic acid
DTC direct-to-consumer
FAP familial adenomatous polyposis
FBE full blood examination
FH familial hypercholesterolaemia
FISH fluorescence in situ hybridisation
FOBT faecal occult blood test
FRA-BOC familial risk assessment – breast and ovarian cancer
FSH follicle-stimulating hormone
FXPOI Fragile X-associated primary ovarian insufficiency
FXS Fragile X syndrome
FXTAS Fragile X-associated tremor/ataxia syndrome
GP general practitioner
HbE haemoglobin E
HHC hereditary haemochromatosis
HNPCC hereditary non-polyposis colorectal cancer
ID intellectual disability
IVF in-vitro fertilisation
LCHADD 3-hydroxy long chain acyl-CoA dehydrogenase deficiency
LDL-C    low-density lipoprotein cholesterol
MADD multiple acyl-CoA dehydrogenase deficiency
MBS Medicare Benefits Schedule
MCADD medium chain acyl-CoA dehydrogenase deficiency
MCH mean corpuscular haemoglobin
MCV mean corpuscular volume
MLPA multiplex ligation-dependent probe amplification
MODY maturity onset diabetes of the young
MTHFR methylenetetrahydrofolate reductase
NF1 neurofibromatosis type 1
NGS next generation sequencing
NHMRC National Health and Medical Research Council
NIPS non-invasive prenatal screening
NIPT non-invasive prenatal testing
PAPP-A pregnancy-associated plasma protein A
PCR polymerase chain reaction
PGD pre-implantation genetic diagnosis
PGT personal genomic testing
PKU phenylketonuria
PRS polygenic risk score
PPV positive predictive value
PSA prostate-specific antigen
QF-PCR quantitative fluorescence polymerase chain reaction
RACGP The Royal Australian College of General Practitioners
SADS sudden arrhythmic death syndrome
SCADD short chain acyl-CoA dehydrogenase deficiency
SCHADD short chain hydroxy acyl-CoA dehydrogenase deficiency
SCID severe combined immune deficiency
SMA spinal muscular atrophy
SNP/SNV single nucleotide polymorphism/variant
ß-hCG human chorionic gonadotrophin
SSRI selective serotonin reuptake inhibitor
TFP trifunctional protein deficiency
VLCADD very long chain acyl-CoA dehydrogenase deficiency
VOUS/VUS variant(s) of uncertain significance
VTE venous thromboembolism