| 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 |