Home
Tests
Conditions
Health Screenings
Understanding your tests
Inside the lab
Test information
About us
Familial Hypercholesterolaemia (FH) genetic testing
Was this page helpful?
Search
Find an explanation of your pathology test
Keyword:
Test name
Tests...
All Tests and synonyms
Test not listed?
1,5-AG
1,5-anhydroglucitol
17-Hydroxyprogesterone
5HIAA urine
Acetylcholine receptor Ab
Acid fast bacilli culture
ACTH
Activated partial thromboplastin time
AFB
Alanine aminotransferase (ALT)
Albumin
Albumin/creatinine ratio urine
Aldosterone and renin
ALK Mutation (Gene Rearrangement)
Alkaline Phosphatase (ALP)
Alpha-1-antitrypsin
Alpha-fetoprotein (AFP)
Alpha-gal antibody
Amino acids
Ammonia
Amylase
ANCA/MPO/PR3 Antibodies
Angiotensin converting enzyme
Antenatal group and screen
Anti Xa levels
Anti-beta2 glycoprotein 1
Antibody identification
Anti-Mullerian Hormone
Antinuclear Ab
Antiphospholipid antibodies
Antistreptolysin O Titre
Antithrombin
Apolipoprotein A-I
Apolipoprotein B
Apolipoprotein E genotyping
Arbovirus Testing
ASOT
Aspartate aminotransferase (AST)
AST
Autoantibodies
B12
Bacterial Wound Culture
B-cell Immunoglobulin Gene Rearrangement
BCR-ABL1
Beta-2 glycoprotein 1 Antibodies
Beta-2-microglobulin
Beta-2-transferrin
Bicarbonate
Bilirubin
Blood culture
Blood film examination
Blood gases
Blood group
Blood group antibody screen
Body fluid analysis
Bone markers
Bone marrow biopsy
Bordetella pertussis
BRAF V600 Mutation
Brain natriuretic peptide (BNP or NT-proBNP)
BRCA1 and BRCA2
C diff
CA 15-3
CA 19-9
CA-125
Caeruloplasmin
Calcitonin
Calcium
Calprotectin faeces
Carbamazepine
Carcinoembryonic antigen (CEA)
Cardiac risk assessment
Cardiolipin Ab
Catecholamines, plasma and urine
CBC
CBC, CBE, CBP
CD4 count
Centromere Ab
Cerebrospinal fluid examination
Cervical screening test
CF gene mutation testing
Chlamydia trachomatis
Chloride
Cholesterol
Cholinesterase
Chromogranin A
Chromosome Studies
CK-MB
Clostridium difficile
CO2
Coagulation factors
Coeliac disease tests
Complement
Copper
Cortisol
COVID-19
C-peptide
C-reactive protein
C-reactive protein high sensitivity
Creatine kinase
Creatinine
Creatinine urine
Crossmatch
Cryoglobulin
Culture & sensitivity, urine
Cyclic citrullinated peptide Ab
Cyclosporin
Cystatin C
Cytomegalovirus
D-dimer
Dehydroepiandrosterone sulfate (DHEAS)
Diabetes-related autoantibodies
Differential - white blood cells
Digoxin
Direct antiglobulin test
double stranded DNA Ab
Drugs of abuse screen
E/LFT
eGFR
EGFR Mutation Testing
Electrolytes
Electrophoresis
Emergency and Overdose Drug Testing
Epstein-Barr Virus Antibodies
Erythrocyte sedimentation rate
Erythropoietin
Ethanol
EUC
Extractable Nuclear Antigen Antibodies Panel
Factor V Leiden and PT 20210 Mutation
Faecal Elastase
Familial Hypercholesterolaemia (FH) genetic testing
FBC, FBE, FBP
Ferritin
Fibrinogen
FMR1 Mutations
Folate
Follicle stimulating hormone (FSH)
Fragile X gene
Free Light Chains
Free T3
Free T4
Free Thyroxine (FT4)
Free triiodothyonine (FT3)
Fructosamine
Full blood count
Fungal Tests
Gamma glutamyltransferase
Gastrin
Genetic testing
Genome-wide Microarray testing
GGT
Glucose
Glucose-6-Phosphate Dehydrogenase
GlycoMark
Gram Stain
Growth hormone
Haematocrit
Haemoglobin
Haemoglobin variants
Haptoglobin
HbA1c
hCG
HDL cholesterol
Helicobacter pylori
Hepatitis A virus
Hepatitis B virus
Hepatitis C virus
HER2
Hereditable Pathogenic Variants in Colorectal and Endometrial Cancer
Herpes simplex virus 1 & 2
HFE Mutations
HIV antigen/antibody
HIV genotypic resistance
HIV p24 Ag
HIV viral load
HLA Testing
HLA-B27
HLAB5701 gene status
Home tests
Homocysteine
Hormone receptor status
Human chorionic gonadotropin
Human papillomavirus
IGF-1
Immunoglobulin E total
Immunoglobulins
Immunophenotyping
Immunoreactive trypsin
Infectious mononucleosis screen
Influenza tests
Inhibin
INR
Insulin
Ionized calcium
Iron
Iron studies
IRT
JAK2 mutation
Kidney function tests
Kidney Stone Analysis
Lactate
Lactate dehydrogenase (LD)
Lactate dehydrogenase (LDH)
LDL cholesterol
LDL cholesterol, direct
Lead
LFT
Lipase
Lipids
Lipoprotein (a)
Lipoprotein electrophoresis
Lithium
Liver function tests
Liver panel
Lupus anticoagulant
Luteinising hormone (LH)
Lyme disease serology
Magnesium
Maternal screening
MCH
MCHC
MCV
Measles and Mumps tests
Mercury
Mesothelin
Metanephrine urine 24h
Metanephrines
Methicillin resistant Staphylococcus aureus screening
Microalbumin
Microarray test
Microsatellite instability (MSI)
Mitochondria Ab
MPL Mutation
MTHFR Mutation
Mycophenylate
Mycoplasma
Myoglobin
Neisseria gonorrhoeae
Nicotine / cotinine
NIPT - non-invasive prenatal testing
Occult blood faeces
Oestradiol
Organic acids
Osmolality
Ova & parasites
Ova, Cysts and Parasites
Pap smear
PAPP-A
Paracetamol
Parathyroid hormone
Parvovirus B19
PDGFRA-FIP1L1 gene rearrangement
Pericardial fluid analysis
Peritoneal fluid analysis
Pharmacogenomic Tests
Phenobarb
Phenobarbital
Phenytoin
Phosphate
Phosphorus
Plasma free metanephrine
Platelet count
Platelet function test
Pleural fluid analysis
PMP22 Gene
Porphyrins
Potassium
Prealbumin
Pregnancy test
Procalcitonin
Progesterone
Prolactin
Prostate-specific antigen (PSA)
Protein and immunofixation electrophoresis
Protein C and Protein S
Protein urine
Prothrombin time
PSEN1
PT
PTH
RAS gene mutation
RAST
RBC
RDW
Red blood cell count
Red cell antibody screen
Red cell indices
Renin
RET Gene
Reticulocyte count
Rheumatoid factor
Rickettsial diseases testing
RSV
Rubella virus test
Salicylate
Semen analysis
Serotonin whole blood
Sex hormone binding globulin (SHBG)
Sickle cell
Sirolimus
Smooth muscle Ab
SMRP
Sodium
Somatic Tumour Gene Testing
Sputum Culture
Stool Culture
Strep throat testing
Susceptibility testing
Sweat chloride
Sweat Chloride Test
Synacthen Test
Synovial fluid
Syphilis serology
T3
T4
Tacrolimus
T-Cell Receptor Gene Rearrangement
Testosterone
Therapeutic drug monitoring
Thiopurine methyltransferase
Thyroglobulin
Thyroid antibodies
Thyroid function test
Thyroid stimulating hormone (TSH)
TORCH test
Total protein
Toxoplasma gondii
Transferrin
Transferrin and TIBC
Trichomonas vaginalis detection
Triglycerides (fasting or random)
Troponin (I or T)
Trypsin faeces
Trypsinogen
Tryptase
Tuberculosis screening tests
Tumour markers
U&E
Unvalidated tests
Urea
Uric acid
Urinalysis
Urine culture
Urine M/C/S
Valproate
Vancomycin
Varicella zoster virus
VHL Gene Mutation
Vitamin B12 and folate
Vitamin D 25 OH
von Willebrand Factor
White blood cell count
Whole Genome or Whole Exome Testing For Childhood Syndromes
Zinc protoporphyrin
Condition/Disease
Conditions...
All Conditions/Diseases
Acidosis and alkalosis
Adrenal insufficiency and Addison's disease
Alcoholism
Allergies
Alzheimer's disease
Anaemia
Angina pectoris
Ankylosing spondylitis
Anthrax
Antiphospholipid Syndrome
Arthritis
Asthma
Autoimmune disorders
Barmah Forest virus
Benign prostatic hypertrophy
Bleeding disorders
Bone marrow disorders
Bowel cancer
Breast cancer
Buruli or Bairnsdale ulcer, Mycobacterium ulcerans
Cardiovascular disease (CVD)
Cervical cancer
Chlamydia
Chronic fatigue syndrome
Coeliac disease
Congenital adrenal hyperplasia
Congestive heart failure
Conn's syndrome
COVID-19
Cushing's syndrome
Cystic fibrosis
Diabetes
Diarrhoea
Diseases of the pancreas
Down syndrome
Endocrine system and syndromes
Epilepsy
Fibromyalgia
Fragile X syndrome
Fungal Infections
Gallstones
Genetic conditions
Gonorrhoea
Gout
Graves' disease
Guillain-Barré syndrome
Haemochromatosis
Hashimoto's Thyroiditis
Heart attack
Heart disease
Hepatitis
Herpes
High blood pressure
HIV
HPV
HTLV
Human immunodeficiency virus (HIV)
Huntington's disease
Hypercoagulable disorders
Hypertension (high blood pressure)
Hyperthyroidism
Hypothyroidism
Infertility
Inflammatory bowel diseases
Influenza
Insulin resistance
Jaundice
Juvenile idiopathic arthritis
Kidney and urinary tract: function, disorders and diseases
Lead poisoning
Leukaemia
Liver disease
Lung diseases
Lupus
Lyme disease
Lymphoma
Malabsorption
Malaria
Malnutrition
Medullary thyroid carcinoma
Meningitis and encephalitis
Menopause
Metabolic syndrome
Multiple Endocrine Neoplasia syndromes
Multiple myeloma
Multiple sclerosis
Myasthenia Gravis
Myeloproliferative neoplasms
Neural tube defects
Nontuberculous Mycobacteria
Osteoarthritis
Osteoporosis
Ovarian cancer
Pancreatic cancer
Pancreatic diseases
Pancreatic insufficiency
Pancreatitis
Pelvic Inflammatory Disease (PID)
Peptic ulcer
Pituitary disorders
Point-of-Care Testing (PoCT)
Polycystic ovarian syndrome
Porphyria
Pregnancy
Progressive systemic sclerosis (PSS)
Prostate cancer
Proteinuria
Q fever
Reactive arthritis
Reiter's syndrome
Rheumatoid arthritis
Rickettsial Diseases in Australia
Ross River fever
Sarcoidosis
Scleroderma
Sepsis
Septic arthritis
Sexually transmitted infections
Sickle cell anaemia
Sjogren Syndrome
Skin Cancer
SLE
Staph wound infections and MRSA
STIs or STDs
Stroke
Suxamethonium apnoea
Syphilis
Systemic lupus erythematosus
Testicular cancer
Thalassaemia
Thyroid diseases
Transgender Transition Testing
Travellers' Diseases
Trichomonas
Tuberculosis
Urinary tract infection (UTI)
Vasculitis
Viral hepatitis
Vitamin B12 and folate deficiency
West Nile virus
Wilson disease
Wound and skin infections
Health check
Screening...
All Screening Recommendations
Screening tests for newborns
Screening tests for infants
Screening tests for children
Screening tests for young adults
Screening tests for adults
Screening tests for adults: 50 and over
Pregnancy & prenatal testing
On This Page
At a glance
What is being tested?
The test
Common questions
Related information
At a glance
Also known as
FH genetic testing
Why get tested?
To help confirm a diagnosis of familial hypercholesterolaemia (FH).
When to get tested?
If your doctor suspects that your high LDL cholesterol levels may be due to an inherited disorder, or if you have a close blood relative who has been genetically diagnosed with FH.
Sample required?
A blood sample drawn from a vein in your arm.
What is being tested?
LDL (Low Density Lipoprotein) cholesterol is the 'bad' cholesterol; it increases the risk of cardiovascular disease. The body's cells, particularly the liver cells, take up the LDL cholesterol from blood via LDL-receptors. Normally a person has two working copies of the gene encoding the LDL-receptor (one copy inherited from their mother and one from their father), but in FH one copy is defective, so only half of the normal numbers of LDL-receptors are produced. This results in LDL cholesterol acumulating in blood and around the body, including the artery walls (known as atherosclerosis) and increasing risk of early heart disease. FH is a 'dominant' genetic disorder, meaning having a single defective gene causes FH.
Worldwide, about 1 in 250 people have FH caused by a 'mutation'. or 'variant', in the LDL-receptor or in another gene involved in the clearance of LDL particles from the blood.
There are two types of FH genetic testing:
1. A test looking at a person's DNA to search for any variant in the FH-causing genes.
2. A test looking at a person's DNA for just a specific variant that has previously been identified in their family.
How is the sample collected for testing?
A blood sample is obtained by inserting a needle into a vein in your arm.
The Test
How is it used?
FH genetic testing is used to confirm a diagnosis of FH. For a given LDL cholesterol level, people who have an FH-causing genetic variant are at a higher cardiovascular disease risk than those without an FH-causing variant. Those with FH may be monitored more closely and treated more aggressively with cholesterol-lowering therapy.
People diagnosed with FH may be eligible for PCSK9 inhibitor therapy.
When is it requested?
FH genetic testing for an 'index case' (the person identified in their family with the condition) is requested by a specialist if they suspect a person's high LDL cholesterol is due to FH. Features that increase the likelihood of FH include early heart or vascular disease (before age 55 years in men and before age 60 years in women), cholesterol deposits in the tendons (xanthomata) or eyes (arcus cornealis), and a strong family history of high cholesterol or premature heart disease. A calculated score called the Dutch Lipid Clinic Network Score, based on the individual's family history, untreated LDL-cholesterol levels and physical signs, is used to determine whether FH is likely. The DLCNC score can be calcuated at
https://www.athero.org.au/calculator/
.
What does the test result mean?
Possible outcomes of genetic testing include:
A disease-causing (pathogenic), or likely disease-causing (likely pathogenic), genetic variant is identified. This confirms the diagnosis of FH.
A disease-causing variant was not identified. This may be because the high cholesterol is not due to a genetic change, is due to a genetic change(s) in a gene(s) not analysed in this test, or is due to a change in one of the genes analysed for the technical reasons the test method was unable to detect it. This result does not mean that the person does not have FH.
A variant of uncertain significance is identified. This means that based on current knowledge of the gene involved, the laboratory is unable to determine whether the genetic change is the cause of the high cholesterol.
About Reference Intervals
Is there anything else I should know?
FH genetic testing is not available in many laboratories. Your specimen may need to be sent away to a specialist reference laboratory, and the results may take weeks to months before they are available.
Common Questions
I have FH. Will my child/ family members have FH?
FH is a dominantly inherited genetic disorder. If you have FH confirmed by genetic testing, each of your first degree family members (parents, siblings, and children) has a 50% chance of also having the gene variant causing FH.
Is FH genetic testing covered by Medicare?
As of 1
st
May 2020, yes - FH genetic testing may be ordered for testing an ‘index case’ by a specialist (73352) or for testing first or second degree relatives of a patient with an FH-causing variant by their GP or specialist (73353).
Related information
Related lab tests
LDL cholesterol
,
cholesterol
,
lipid profile
More on this site
Cardiovascular disease
,
Heart attack
Elsewhere on the web
FH Australasia Network
FH Calculator (Dutch Lipid Clinic Network Score)
International FH Foundation
Last Review Date: September 22, 2022
Was this page helpful?
Tests
Conditions / diseases
Health checks
Screening tests for newborns
Screening tests for infants
Screening tests for children
Screening tests for young adults
Screening tests for adults
Screening tests for adults: 50 and over
Pregnancy & prenatal testing
Point-of-Care Testing (PoCT)
Glossary
Video Library