Abbreviations

aCGH

Array comparative genomic chain reaction (PCR)

ACM

Advisory Committee on Medicines

ADEC

Australian Drug Evaluation Committee

BRCA1

Breast cancer 1

BRCA2

Breast cancer 2

CALR

Carcinogenic mutated form of the calreticulin gene

CF

Cystic fibrosis

CUC

Clinical Utility Card

DNA

Deoxyribonucleic acid

ESC

Economic Sub-Committee

FISH

Fluorescence in situ hybridisation

FXS

Fragile X syndrome

HTA

Health Technology Assessment

ICER

Incremental cost-effectiveness ratio

IHC

Immunohistochemistry

InGeNA

Industry Genomics Network Alliance

ISH

in situ hybridisation

JBC

Jurisdictional Blood Committee

LHNs

Local Health Networks

MBS

Medicare Benefits Schedule

MEA

Managed Entry Agreements

MLPA

Multiplex ligation-dependent probe amplification

MPN

Myeloproliferative neoplasms

MPS

Massively parallel sequencing

MRFF

The Medical Research Future fund

MSAC

Medical Services Advisory Committee

NGS

Next-generation sequencing

NHRA

National Health Funding Agreement

NIPT

Non-Invasive Prenatal Testing

PASC

The PICO Advisory Sub-Committee

PBAC

Pharmaceutical Benefits Advisory Committee

PBS

Pharmaceutical Benefits Scheme

PCR

Polymerase chain reaction

PICO

Population, Intervention, Comparator and Outcome

PVI

Patient Voice Initiative

RANZCOG

The Royal Australian and New Zealand College of Obstetricians and Gynaecologists

RCPA

Royal College of Pathologists of Australasia

REAP

Reimbursement Expert Advisory Panel

RhD

Rhesus D

SMA

Spinal muscular atrophy 

SNP

Single nucleotide polymorphism

SoC

Standard of care

SPA

Special Pricing Arrangements