Genetic Carrier Screening

At Clinical Labs, we offer 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. These tests are relevant for individuals or couples who are either planning, or are 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

A cystic fibrosis, fragile X syndrome and spinal muscular atrophy screening test.

Our genetic carrier screen will give you information regarding your chances of having a child with a genetic condition like cystic fibrosis (CF), fragile X syndrome (FXS) or spinal muscular atrophy (SMA).

Cystic fibrosis (CF)

CF affects about 1 in 2,500 people. One in 25 individuals are carriers for cystic fibrosis and CF genetic testing covers more than 50 common mutations in the CFTR gene. CF is a serious life-shortening genetic condition. Generally, people with CF produce thick, sticky mucous in their lungs and digestive tract, causing frequent lung infections and poor absorption of nutrients from food. 

Spinal muscular atrophy (SMA)

SMA affects about 1 in 6,000 people. One in 35 individuals are carriers of spinal muscular atrophy and the SMA test identifies the deletions of the SMN1 gene. 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 an individual is a carrier or non-carrier. When the results indicate you are a carrier, it is recommended your partner is also tested to further clarify the risk of having a child that is affected by SMA.

Fragile X syndrome (FXS)

FXS is the most common inherited form of intellectual disability. You do not need to have a family history of FXS to be at risk of having children with the condition. Approximately 1 in 250 females in the general population carry a genetic change that puts them at risk of having a child affected with FXS. The condition is seen across all ethnic groups and affects an estimated 1 in 3,600 males and 1 in 5,000 females. FXS carrier screening is recommended for females as it is inherited in a different way to CF and SMA and only requires that the female have the gene change for there to be a risk of having achild affected by FXS.

Comprehensive Carrier Screening

Comprehensive Carrier Screening offers a comprehensive test involving the screening of 302 genes that is appropriate for people of all ethnicities who want a more comprehensive carrier screen. Comprehensive Carrier Screening evaluates your 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.

The Comprehensive 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
Ashkenazi Panel Screening

The Ashkenazi Jewish community in Australia is at increased risk of autosomal recessive conditions that are either lethal or linked to significant morbidity. If you or your partner are of Ashkenazi (European) Jewish ancestry you should be offered carrier screening for these genetic disorders, even if one or both of you are only partly of Ashkenazi ancestry. Most cases of these rare disorders occur when there is no family history.

The conditions tested for are:
 

  • Tay-Sachs disease
  • Canavan disease
  • Niemann-Pick disease
  • Bloom syndrome
  • Cystic fibrosis
  • Fanconi anaemia
  • Familial dysautonomia
  • Mucolipidosis IV

This test can determine whether you or your partner are carriers of any of the eight genetic conditions we test for that are more common in people of Ashkenazi Jewish ancestry. Importantly, being a carrier for one of these eight conditions does not impact your own health, but it may increase the likelihood of having a child affected by the condition.

 
gene acces carrier screen

Comprehensive Carrier Screening

ashkenazi jewish carrier screening

Population All ethnicities All ethnicities Ashkenazi Jewish Population
Genetic conditions CF, SMA & FXS 100+ inherited conditions.

For a full listing of the conditions covered by our Comprehensive Carrier Screening test CLICK HERE
  • Tay-Sachs disease
  • Canavan disease
  • Niemann-Pick disease
  • Bloom syndrome
  • Cystic fibrosis
  • Fanconi anaemia
  • Familial dysautonomia
  • Mucolipidosis IV
When to test? Ideally, prior to conception; otherwise, in early pregnancy.
 
Ideally, prior to conception; otherwise, in
early pregnancy.
 
Ideally, prior to conception; otherwise, in early pregnancy.
 
Cost

The cost for the full Gene Access test is $350.
The CF test costs $150, the FXS test costs $100, the SMA test costs $195.
If a patient is positive for a particular
condition their partner can be tested for free.

The Comprehensive Carrier Screening test costs $595 The Ashkenazi Jewish Carrier Screening test costs $330
Sample type Blood sample  Blood sample Blood sample
TAT 7-10 business days 3-6 weeks 7-10 business days