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 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 helps you and your partner minimise the chances of passing this condition to your 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 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)

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 Carrier Screening

Comprehensive Carrier Screening offers a comprehensive test involving the screening of up to 301 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 Disorder CF, SMA & FXS Comprehensive (100+ inherited diseases)
  • Tay-Sachs disease
  • Canavan disease
  • Niemann-Pick disease
  • Bloom syndrome
  • Cystic fibrosis
  • Fanconi anaemia
  • Familial dysautonomia
  • Mucolipidosis IV
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 $790 (Partner testing is $700) The Ashkenazi Jewish Carrier Screening test costs $330
Sample type Blood sample or cheek swab Blood sample Blood sample
TAT 7-10 business days 3-5 weeks 7-10 business days