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. These tests should be ordered 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.
A cystic fibrosis, fragile X syndrome and spinal muscular atrophy screening test.
Gene Access gives patients information regarding their chances of having a child with a genetic condition like cystic fibrosis (CF), Fragile X syndrome (FXS) or spinal muscular atrophy (SMA).
It is recommended by guidelines that Genetic Carrier Screening is offered to every woman and couple who are either planning or are in the first stage of a pregnancy regardless of their probability of having these conditions. Note – 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 (number of repeats) in the FMR1 gene for there to be a risk of having a child affected by FXS. If the patient or the partner has a family history of one of these conditions, the chance of being a carrier may be higher.
Cystic fibrosis (CF)
CF affects about 1 in 2,500 individuals and is a severe genetic condition that causes lung and gastrointestinal problems. One in 25 individuals are carriers for CF and CF genetic testing covers more than 50 common mutations in the CFTR gene.
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 the patient is a carrier, it is recommended 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.
HOW TO ORDER
Request Gene Access on the Clinical Labs Genetic Carrier Screening request form. Alternatively, you may request CF, FXS or SMA.
Ask the patient to present at one of the many conveniently located Australian Clinical Labs collection centres.
A 4ml blood sample (EDTA tube), regardless of whether one test or all three are requested.
Results will be available within 7-10 business days of the sample being received by the laboratory. Clinical Labs offer counselling services for positive cases (no extra cost) upon your request and referral.
Medicare does not cover the fee for carrier screening. When all three tests are requested at the same time, the total fee is $350. CF only – carrier screen $150; diagnostic $230. FXS only - $100 or $80 with CF. SMA only - $195. NB: if a patient is positive for a condition, partner can be tested for free.
Comprehensive Carrier Screening offers a comprehensive test involving the screening of 302 genes that is appropriate for patients of all ethnicities who want a more comprehensive carrier screen. Comprehensive Carrier Screening 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.
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
What do the results mean?
A positive result means a disease-causing variant was found, and the patient is a carrier of one or more of the disorders tested. Being a carrier typically does not affect the patient’s health; however, it does mean that there is an increased risk of having a child with that disorder. The next step is usually to test the patient’s partner.
A negative result means that no disease-causing variants were identified for any of the disorders tested. A negative test provides reassurance because the chance of the patient having a child with any of the tested disorders is reduced. However, no test can detect all carriers, so there is still a small chance, or a residual risk, of the patient being a carrier.
HOW TO ORDER
Download and complete the Comprehensive Carrier Screening request form.
Blood sample is required.
Results will be available within 3 to 6 weeks of the sample being received by the laboratory. Australian Clinical Labs offer counselling services for positive cases (no extra cost) upon your request and referral.
$595 - no Medicare rebate available.
The Ashkenazi Jewish community in Australia is at increased risk of autosomal recessive conditions that are either lethal or linked to significant morbidity. Carrier screening for these 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.
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 patients could be a carrier 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 a patient’s own health, but it may increase the likelihood of having a child affected by the condition.
how to order
Request Ashkenazi on the Clinical Labs Genetic Carrier Screening request form.
7-10 business days
Medicare does not cover the fee for Ashkenazi Panel Screening. The total cost of the test is $330.
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.
The full Gene Access test costs $350.
|The Comprehensive Carrier Screening test costs $595||The Ashkenazi Jewish Carrier Screening costs $330|
|Sample type||Blood sample||Blood sample||Blood sample|
|TAT||7-10 business days||3-6 weeks||7-10 business days|
|How to Order||
Fill out the Genetic Carrier Screening
|Fill out the Comprehensive Carrier Screen request form.
Download request form
|Fill out the Genetic Carrier Screening request form.
Download request form