Many parents ask for a list of Essential Pathology Tests for their child with Down Syndrome. We have meticulously gone through all available tests in Australia and come up with this list.

The “Essential Tests” includes Routine Blood Tests which are available from your General Practitioner plus a couple of extras. Essential Tests are covered by Medicare with a couple of exceptions like Reverse T3 (which is around $80).

The list is long because having an extra chromosome has an impact on many biological systems. We can order any of these tests for you during a consultation. But if you request tests through us you pay, as we aren’t eligible for Medicare. Some of the tests such as the FBE – Full blood examination are only $25.00 so you don’t have to pay alot. But if you can request them from your GP even better for you!


  • Comprehensive Blood Chemistry
  • Iron Studies (including ferritin)
  • Full Thyroid Panel: TSH, free T3, free T4, reverse T3, TPOab, ATGab
  • Cortisol
  • Vitamin D hydroxy 25
  • Copper, Zinc
  • CRP
  • Homocysteine
  • Methylmalonic acid (MMA)/
  • Red Cell Folate

The tests below may also be requested:

  • MTHFR snps
  • Coeliac testing: Total IgA, Iga-Ttg, IgA-EMA
  • Candida Antibodies: IgG, IgA, IgM, Candida Antigen
  • Immunoglobulins
  • Heavy Metals: Aluminium, Lead etc
  • Red Cell Magnesium
  • Lipid Profile




Comprehensive Digestive Stool – Macro & Micro description, bacteria, yeasts, parasites (stool)

Organic Acids – Metabolic, Citric Acid, Fatty Acid,Methylation,Pollutants (urine)

Hair Mineral Analysis Level 1, 2 – Hair minerals/ toxic metals (hair test kit)

Amino Acids (plasma/ urinary)  – 37 amino acids (blood or urine)

Neurotransmitters – Serotonin, GABA, Dopamine, Noradrenaline, Adrenaline, Glutamate, ratio (urine)

GI Tests

Gastrin (low B12 from pernicious anaemia, low stomach acid)

Zonulin (Gut permeability) (blood)

Secretory IgA (mucous lining of gut) (saliva)

Pancreatic Elastase 1 (PE 1)(stool)

Food Sensitivity Tests

ALCAT Intolerance Test 50 – 200 foods, chemicals, moulds, herbs (ALCAT test kit)

Gluten Sensitivity Genetic Test – HLA-DQB1 Molecular Analysis (buccal swab)

Methylation Tests

Methylation Profile – SAMe, SAH, 5MTHFR, Folinic acid, THF (methylation kit)

Folate Metabolism Profile – 5MTHF, Folinic Acid, THF, active B12, serum folate, Homocysteine (methylation kit)

Methionine Metabolism Profile – SAMe, SAH, SAME:SAH ratio, active B12, serum folate, Homocysteine, Methionine (methylation kit)

Glutathione, oxidised GSSG (blood)

Glutathione, reduced GSH (blood)

Liver Detoxification

Liver Detoxification Profile – Phase 1 Detoxification/ Phase 2 Detoxification (liver test kit)

Inflammation/ Oxidative Damage

Oxidative Damage Markers – 8-OHdg, Allantoin, Carbonyl Proteins, MDA

Cytokine Panel – GM-CSF, IFNy, IL-1B, IL-2, IL-4, IL-5, IL-6, IL-7, IL-8, IL-10, IL-12, IL-13, TNFa (blood)

Pfieffer Protocol

Kryptopyrroles – HPL (hydroxyhemo pyrrolin-2-one)(urine)

Histamine (blood)

Hormone Tests

Sleep Profile – Cortisol (12-2am), melatonin (12-2pm) (saliva)

Growth Hormone (blood)

IGF-1 & IGF-BP-3 – Insulin-like Growth Factor 1, Insulin-like Growth Factor Binding Protein 3 (blood)

GastroIntestinal Analyses

Parasitology Profile (stool)

Clostridium difficile (stool)

Helicobacter Pylori (stool)

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