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Anti-Müllerian Hormone (AMH) - Female Fertility
The Anti-Müllerian Hormone (AMH) is a biomarker produced by antral and pre-antral follicles for assessing the ovarian reserve and therefore is essential to evaluate potential fertility. This is because the levels of AMH assist in assessing antral follicle count (AFC) to determine fertility and reproductive capacity, predicting early menopause. AMH helps predict oocyte retrieval as well as ovarian responsiveness to therapeutic regimes with clomiphene or recombinant FSH in women considering IVF or other fertility treatments. AMH also supports the diagnosis and correlates with severity of Polycystic Ovarian Syndrome (PCOS). AMH can be useful in monitoring of granulosa cell tumours to detect residual or recurrent disease. At Australian Clinical Labs, we use a fully automated Roche Cobas AMH assay that outperforms all other previous tests, allowing the evaluation of AMH concentration in samples that would otherwise be undetectable, bringing peace of mind to both doctors and patients.
Y Microdeletion - Male Fertility
Approximately 1 in every 25 men are affected by infertility. Of these, 30-40% present abnormalities in their semen that appear to have a genetic cause. The molecular diagnosis of Y-chromosomal micro-deletions is essential to establish the source of infertility in men with azoospermia or severe oligozoospermia
First Trimester Screening (FTS) or Maternal Serum Screening (MSS)
The First Trimester Screening (9-13.6 w) is a safe and non-invasive assessment 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), we include the Multiple of Medians (MoMs) of two blood chemistry results, pregnancy-associated placental protein-A (PAPP-A) and free human chorionic gonadotropin (free-hCG) measured using Fetal Medicine Foundation (FMF) accredited Platform, along with the ultrasound Nuchal Translucency (NT) measurement to assess the risk of aneuploidy. It also assists in predicting IUGR, adverse outcome and pre-eclampsia risk in early pregnancy.
Harmony- Non Invasive Prenatal Testing (NIPT) - First or Second Trimester Trisomy Screening
The Harmony Prenatal Test is a cell-free DNA assessment that evaluates the risk for trisomies 21, 18, and 13 from a maternal blood sample collected as early as 10 weeks of gestation. It predicts the risk of Down Syndrome (trisomy 21), Edward Syndrome (trisomy 18) and Patau Syndrome (trisomy 13). It may also be used to analyse X and Y sex chromosome aneuploidies such as Turner and Kleinfelter syndromes. At Australian Clinical Labs we offer Harmony NIPT testing in house. Compared to other tests within the same category, Harmony assesses the risk of trisomy 21 with an unmatched accuracy rate of 99%, minimising anxiety and the need for invasive follow-up procedures, such as CVS and amniocentesis, due to false-positive results.
Prenatal Testing for a Better Tomorrow
Our prenatal range of tests sits at the forefront of the industry and, with higher accuracy than ever before, they ensure even healthier outcomes for both mothers-to-be and their babies.
Genetic Carrier Screening:
At Clinical Labs, we supply a comprehensive carrier screening service that is highly sensitive in identifying individuals at risk, and can be performed in a timely and cost-effective manner. This test should be ordered to individuals or couples who are either planning or in the first stage of a pregnancy with or without a family history. Early detection is paramount as it allows more time for counselling and offers greater reproductive options for those at risk.
GENE-ACCESS - Genetic Carrier Screening
Cystic Fibrosis (CF)
CF affects about 1 in 2,500 individuals and is a severe genetic condition that causes lung and gastrointestinal problems. Our Cystic Fibrosis Carrier Screening Kit contains everything required to submit a painless cheek swab sample to clarify risk and help couples minimise the chances of passing this condition to their offspring.
Spinal Muscular Atrophy (SMA)
SMA is a disease that results in a weakening of the muscles in the body due to the breakdown and loss of specific nerve cells in the spinal cord. The age at which symptoms begin can vary from birth to early adulthood. There are two possible outcomes when testing for SMA, results may indicate a carrier or non-carrier. When the results indicate that the patient is a carrier, it is recommended that the carrier’s partner is also tested to further clarify the risk of having a child that is affected by SMA.
Fragile X Syndrome (FXS)
Fragile X Syndrome is the most common cause of inherited mental retardation, affecting approximately 1 in 3,600 men and 1 in 6,000 women. Women who are fragile X carriers have up to a 50% chance of having a child with fragile X syndrome while men who are fragile X carriers will pass the altered gene to all their daughters but none of their sons. This test is vital to establish the presence of fragile X in potential carriers, as daughters of carrier men are expected to be intellectually normal but are at risk of having children affected by this syndrome. When the mutation is found, family studies are recommended as well as full thrombophilic screens, if not previously performed.
Comprehensive Genetic Carrier Screening
Clinical Labs now offers a comprehensive genetic carrier screening test involving the screening of up to 301 genes, and is appropriate for patients of all ethnicities who want a more comprehensive carrier screen. The comprehensive test evaluates an individual’s carrier status for more than 100 inherited diseases by analysing up to 400 genetic mutations. Pre-conception genetic carrier screening includes rare autosomal recessive and X-linked recessive single gene conditions. In most cases, there is no family history of the condition.
Our Comprehensive Genetic Carrier Screening Panel Includes:
- Severe and prevalent disorders seen across all ethnicities
- All disorders recommended by the American College of Obstetricians and Gynecologists (ACOG) and the American College of Medical Genetics (ACMG)
- An extended list of disorders recommended by national Jewish societies
- 21 X-linked disorders
- Selection of disorders found on the newborn screen
- Full gene sequencing with deletion and duplication analysis leading to a 99% detection rate for most genes
- Actionable results; no reporting of variants of unknown significance
Other Genetic Screening
Factor V Leiden
The Factor V Leiden mutation is the most common genetic risk factor identified in patients with thrombosis and is present in 45% of familial thrombophilia. Heterozygous individuals have chances 8 times higher to present venous thrombosis compared to the rest of the population, while the relative increase in risk for homozygous individuals is approximately 80-fold.
Ashkenazi Panel Screen
The Ashkenazi Jewish community in Australia is at risk of an increased incidence of autosomal recessive conditions that are either lethal or linked to significant morbidity. Carrier screening for Jewish genetic disorders should be offered to every couple of Ashkenazi (European) Jewish ancestry, even if one or both are only partly of Ashkenazi ancestry. Most cases of these rare disorders occur when there is no family history.