Laboratory Testing

More about Laboratory Testing

Autism Treatment Plus has partnered with laboratories in the UK and abroad to provide a range of testing tailored to the needs of individuals with autism.

These laboratories include: Doctor’s Data, Great Plains Laboratory and Genova Diagnostics in the US, Syn-Lab and Red Laboratories in Belgium, Laboratoires Reunis in Luxembourg, BioLabs and The Doctor’s Laboratory in the UK.

The tests we may recommend for your child will depend on his/her clinical symptoms as well as developmental history and the reviewing of earlier laboratory tests when available. The typical profile of the tests recommended to initiate a programme is called Basic Autism Profile and is detailed below. Please note that it is not needed to proceed with all these tests together at the same time and not all the tests may be recommended for your child. We also typically write to the child’s GP to ask for some of the blood tests to be carried out on the NHS. This reduces the range of blood tests to be carried out privately, the blood tests available on the NHS are listed below (*marked with an asterix).

Detailed Information for key laboratory tests:

Organic acid Test (included in the Basic Autism profile)

The organic Acid Test (OAT) measures urinary organic acids formed in various tissues or by intestinal microbes. Accumulation of organic acids in the urine can indicate metabolic dysfunction, nutrient deficiencies and microbial overgrowth. Abnormal levels of organic acids can be traced to inherited or acquired enzyme deficiencies, a build-up of toxicants, specific nutrient deficiencies, or drug effects. Every cell is affected when a metabolic pathway is sub-sufficient.

Reports on profound vitamin, minerals and fatty acids deficiencies in autism abounds. There is no claim that the deficiencies are causative or even specific of autism, but rather that (within the broader picture of imbalances seen in autism), they exacerbate the autistic features.

Diverse metabolic abnormalities and biochemical deficiencies have been detected in autism. These include abnormalities in amino acid levels particularly in relation to tryptophan metabolism, and include the commonly reported hyposerotonia seen in autism. There are also abnormalities in Krebs cycle intermediates (glucose metabolism), purine metabolism, mitochondrial dysfunction and impaired sulfuration and methylation pathways.

GPL-TOX: TOXIC NON-METAL CHEMICAL PROFILE (£160 when combined with the OAT, £292 when done on its own) (Optional)

Every day, we are exposed to hundreds of toxic chemicals through products like pharmaceuticals, pesticides, packaged foods, household products, and environmental pollution. As we have become more exposed to chemical-laden products and to toxic chemicals in food, air, and water, we have been confronted with an accelerating rate of chronic illnesses like cancer, heart disease, chronic fatigue syndrome, chemical sensitivity, autism spectrum disorders, ADD/AD(H)D, autoimmune disorders, Parkinson’s disease, and Alzheimer’s disease.

Because exposure to environmental pollutants has been linked to many chronic diseases, The Great Plains Laboratory has created GPL-TOX, a toxic non-metal chemical profile that screens for the presence of 172 different toxic chemicals including organophosphate pesticides, phthalates, benzene, xylene, vinyl chloride, pyrethroid insecticides, acrylamide, perchlorate, diphenyl phosphate, ethylene oxide, acrylonitrile, and more. This profile also includes Tiglylglycine (TG), a marker for mitochondrial disorders resulting from mutations of mitochondrial DNA. These mutations can be caused by exposure to toxic chemicals, infections, inflammation, and nutritional deficiencies.

More information available here:

Urinary Porphyrin Test (Optional) and Hair Test (heavy metals, included in the Basic Autism profile)

Published reports suggest that heavy metal toxicity is implicated in the aetiology of autism (Bernard et al. 2001; Holmes et al. 2003; McGinnis 2001). Baby-hair mercury levels in autistic children are abnormally low, despite evidence of high maternal levels of exposure (Holmes et al. 2003) and elevated mercury release on administration of chelating agent (Bradstreet 2003). These results, largely replicated by others (Adams & Romdalvik 2004; Hu et al. 2003) suggest that children with autism may have a deficit in mercury export into hair, perhaps reflecting of a more global heavy metal detoxification issue.

There are many indications that environmental levels of mercury are rising, through accumulated industrial emissions with soil and ocean contamination. A recent study by (Palmer et al. 2005) demonstrated a statistical association between environmental mercury exposure and autism prevalence in Texas (USA). A UK study further demonstrated an increased mercury exposure arising from fish consumption both in the mother and in the new-born child (umbilical cord) (Daniels et al. 2005).

Urinary Challenge Test (Optional)

Testing heavy metal toxicity in autism
Given that hair levels do not adequately reflect body burden (Holmes et al. 2003), a second method of evaluation is needed. This is provided by levels of urinary porphyrins derived from renal haem metabolism. The kidney is one of the primary sites of heavy metal toxicity (together with the gastro-enteric system and the brain). Studies on rats exposed to methylmercury (Pingree et al. 2001) and human subjects with exposure to mercury (Gonzalez-Ramirez et al. 1995) or lead (Rosen & Markowitz 1993) have shown that urinary porphyrin profiles are directly correlated to the exposure to metals. There is a characteristic elevation of pentacaboxy- and copro-porphyrins, and also of the atypical molecule precoproporphyrin that appears to be a specific marker of heavy metal exposure (Woods 1996). These metabolites are very commonly elevated in autism. In a large-scale study of over 200 children, we have demonstrated a specific association of autism with elevation of urinary porphyrins (Nataf et al, 2006).

Specimen stool (Optional)

The ability to digest and absorb nutrients from our food is essential. Poor digestion and malabsorption of vital nutrients can contribute to problems with degenerative diseases, compromised immune status, and deficiency states caused by inadequate minerals, vitamins, carbohydrates, fats and amino acids.
The gastrointestinal tract must also eliminate undigested food residues and toxins, and maintain a sensitive balance of beneficial microorganisms. Any imbalances in these processes can impact on wide-reaching bodily process including hepatic, neurological, immunological, musculoskeletal, and other vital body organ functions. Signs and symptoms of systemic inflammation may originate from dysfunction within the gastrointestinal tract

This is one of the most important areas of concern for an autistic child. There is a growing list of abnormalities associated with the gastrointestinal tract and its interaction with both the immune system and the function of the brain. Known digestive problems (HCl deficiencies, digestive enzyme deficiencies) and stool abnormalities (light, frothy, diarrhoea, constipation, and bile insufficiency) may be present in a large portion of children with autism. Many autistic children display dysbiosis, candidiasis, endogenous toxicity, parasitic, viral, fungal and anaerobic pathogenic bacteria esp. clostridia, staphylococci, vibrionaceae, sulphate reducing bacteria and E.coli sp. Digestion of foods is impaired due in part to secretin and Cholecystokinin (CCK) deficiencies, abnormal pH, low levels of short chain fatty acids, putrefaction and fermentation imbalances, elevated ammonia levels, inflammation (lymphoid nodular hyperplasia) and elevated intestinal permeability. The digestion, absorption and utilisation of amino acids, essential fatty acids and carbohydrates plus vitamins, minerals and trace elements are fundamental for optimum health and functionality.

Associated problems such as irritability, aggression, self-injurious behaviour, pain, headaches, eczema, food cravings, limited selection of foods, sleep disturbances, hypersensitivity, vomiting, dark circles beneath eyes, red earlobes/pink cheeks and chronic infections are common in autism and are often related to a gastro-intestinal disturbance.

This test looks at microbial imbalances, Candida, enzyme adequacy, short chain fatty acids, pH, immunological and inflammatory markers and absorption.

FlorInscan + (£224.00)- We now prefer to do the Florinscan test rather than DDI comprehensive stool test.

Comprehensive Analysis of Gut Ecology System
The intestine has a surface of 400m² and is herewith the largest body surface of the human organism. It contains about 1014 microorganisms, which perform important metabolic, secretory, and immunological tasks.
Many exogenous and endogenous factors influence the quantitative and qualitative composition of the gastrointestinal flora. An imbalance of this composition can cause gastrointestinal discomfort and promote endogenous infections as well as numerous other diseases.

FlorInScan Plus is an advanced screening, which includes the analysis of the gastrointestinal flora, the assessment of several immunologic or inflammatory biomarkers, thus allowing the evaluation of invasive alterations of the mucosa and permeability issues, as observed e.g. in cases of gastrointestinal chronic inflammatory diseases and tumors.

Histamine stool test (£68.50)- Recommended in cases of clear food intolerances.

Histamine intolerance results from a disequilibrium of accumulated histamine and the capacity for histamine degradation. Histamine is a biogenic amine that occurs to various degrees in many foods. In healthy persons, dietary histamine can be rapidly detoxified by amine oxidases, whereas persons with low amine oxidase activity are at risk of histamine toxicity. Diamine oxidase (DAO) is the main enzyme for the metabolism of ingested histamine. It has been proposed that DAO, when functioning as a secretory protein, may be responsible for scavenging extracellular histamine after mediator release. Conversely, histamine N-methyltransferase, the other important enzyme inactivating histamine, is a cytosolic protein that can convert histamine only in the intracellular space of cells. An impaired histamine degradation based on reduced DAO activity and the resulting histamine excess may cause numerous symptoms mimicking an allergic reaction. The ingestion of histamine-rich food or of alcohol or drugs that release histamine or block DAO may provoke diarrhea, headache, rhinoconjunctival symptoms, asthma, hypotension, arrhythmia, urticaria, pruritus, flushing, and other conditions in patients with histamine intolerance. Symptoms can be reduced by a histamine-free diet or be eliminated by antihistamines. However, because of the multifaceted nature of the symptoms, the existence of histamine intolerance has been underestimated, and further studies based on double-blind, placebo-controlled provocations are needed. In patients in whom the abovementioned symptoms are triggered by the corresponding substances and who have a negative diagnosis of allergy or internal disorders, histamine intolerance should be considered as an underlying pathomechanism.

Adrenal Stress profile- Genova Diagnosis (£85)- Saliva.

This saliva test can detect imbalances in the daily circadian secretions of the stress hormones cortisol and DHEA. Imbalances in these hormones can indicate an inappropriate response that can negatively impact energy levels, emotions, and many other health complaints. These include anxiety, chronic inflammatory conditions, allergies, chronic fatigue syndrome, insomnia, depression, migraines, headaches, recurrent infections, menstrual difficulties and infertility.

Blood tests

Autism Profile (included in the Basic Autism profile)

Tests available on the NHS are marked with an asterix.

RBC essential fatty acids
Folate RBC*
Coenzyme Q10
Vit A
Vit D*
Uric Acid*
Mg RBC (on NHS plasma Mg)*
CBC Complete Blood Count*
Ph AlKaline*
Natural Killer cell counts (absolute numbers)
Nagalase (Infection)
PGE2 (Inflammation)