New Testing Innovations
First Trimester Screening (FTS)First Trimester Screening is the current recommended screening program to identify women with an increased risk of having an affected foetus with chromosomal aneuploidy such as Down syndrome (Trisomy 21), Edwards syndrome (Trisomy 18) or Patau syndrome (Trisomy 13).Combined FTS (cFTS) includes the Multiple of Medians (MoMs) of two blood chemistry results, pregnancy-associated placental protein-A (PAPP-A) and free β-human chorionic gonadotropin (free β-hCG), along with the ultrasound Nuchal Translucency (NT) measurement to assess the risk of aneuploidy. This assessment has 90% sensitivity and 95% specificity for Down syndrome.Benefits of cFTS
• Recommended by clinical guidelines for pregnant women of all age groups.
• Early detection of Down syndrome with a rate of >90%.
• Reduces the number of invasive tests.
• The test is safe.
• It can be offered to pregnant women with failed Non-Invasive Pre-natal Testing (NIPT).
• MoM values of PAPP-A could be predictive of IUGR or Pre-eclampsia risk.
Harmony NIPTHARMONY PRENATAL TEST is a DNA-based blood screening test for Down syndrome. Harmony is more accurate than traditional tests and can be performed as early as 10 weeks, the Harmony Prenatal Test assesses the risk of trisomy 21 with unsurpassed accuracy in pregnant women, of any age or risk. In the first and only prospective blinded study of its kind published in the New England Journal of Medicine, the Harmony Prenatal Test proved superior to traditional first trimester combined screening for both detection rate and false-positive rate.
- Unsurpassed accuracy for any age or risk
o Blinded studies in over 22,000 women of all ages
o Less than 0.01% false-positive rate for trisomy 21
- Most widely used test–in over 400,000 pregnancies and over 100 countries
- Performed as early as 10 weeks, with results in about 10 business days or less
- May minimize invasive procedures caused by false-positive results
- Refer your patient to Australian Clinical Labs for a blood test at 10 weeks or later in pregnancy.
- Australian Clinical Labs submits your patient’s sample to Ariosa Diagnostics and sends a fax to you confirming this.
- Receive results from Australian Clinical Labs in approximately 10 business days or less.
Gene Access Carrier Screen
Gene Access is a carrier screen that tests for Cystic Fibrosis (CF), Spinal Muscular Atrophy (SMA) and Fragile X Syndrome (FXS) which can be done before or during pregnancy.
|Respiratory PCR Tests Available|
|Influenza A & B||Human Adenovirus|
|RSV (A & B)||Human Rhinovirus|
|Parainfluenza 1, 2, 3 & 4||Bordetella Pertussis|
|Influenza A H1N1 2009 (Swine)||Chlamydophila Pneumoniae|
|Influenza A H5N1 (Avian)||Mycoplasma Pneumoniae|
Faecal PCRThe new Enteric Multiplex PCR is now available at Australian Clinical Labs.Australian Clinical Labs Enteric Multiplex PCR can detect 13 enteric pathogens responsible for both viral and protozoal gastroenteritis within a single assay. Gastroenteritis is a major cause of morbidity and mortality worldwide. Although the mortality in developed countries like Australia is much lower than developing countries, the morbidity and economic consequences are still high. Of the enteric pathogens, viruses are the most common cause of gastroenteritis and account for over 60% of cases, while enteric protozoa continue to be the most commonly encountered cause of parasitic diseases, affecting millions of people each year.Request Faecal MCS + PCR.
Symptoms of defiency
- A disaccharidase deficiency can resemble dyspepsia and irritable bowel syndrome (IBS).
- Chronic diarrhoea is probably the most consistent symptom in all of the sugar malabsorption syndromes.
- Coeliac patients on a gluten-free diet who have persistent symptoms, or develop symptoms, should be investigated for a disaccharidase deficiency.
- Infants and children can experience more severe symptoms than adults.
- Undigested carbohydrates can be detected in their stool which can be of watery consistency and acidic in nature.
Who needs to be tested?
Patients who experience meal-related symptoms of carbohydrate intolerance. Disaccharidase deficiency can be classified as either primary (genetically determined) or secondary (due to underlying disease process which can be excluded by histological investigation). Actual enzyme deficiency can be confirmed by means of tissue disaccharidase activity as this is not possible by histological investigation.
Severe vitamin D deficiency will result in Osteomalacia. Low vitamin D levels are also associated with Osteoporosis, increased fracture risk and falls. Additionally, a wide range of diseases have been associated with low levels of circulating serum vitamin D, including autoimmune diseases, cardiovascular and metabolic diseases, some cancers, microbial and respiratory diseases and some neurological and mental health conditions. Most of the current evidence is observational but randomised controlled trials are underway and it is hoped these will provide the evidence base for these associations.Benefits of the being tested