Extended Mutation Carrier Screening PreDNA Test
A simple to do, innovative pre-conceptual DNA test, screens for potential genetic disorders your future child might inherit.
At Science Labs, we aim to assist towards the direction of having healthy babies…
The birth of a child with an inherited genetic disorder takes parents by surprise. Science Labs, in collaboration with SOPHiA GENETICS®, the Global Leader in Data-Driven Medicine, has developed a molecular genetics test to investigate the probability to inherit a genetic disease, before pregnancy, which can reveal whether a couple is high risk for giving birth to a child with a genetic disease. If the test results come out positive, there are actions you can take in favor of giving birth to an unaffected child. Anyone could be a mutation carrier in one or more genes, without knowing. PreDNA Test provides the knowledge of which genes are mutated in any individual.
Which diseases can the PreDNA Test analysis screen for?
International studies have shown that >5% of couples have a high risk of having a child presenting genetic disorders such as:
- Thalassemias (carrier frequency 1 in 12)
- Cystic Fibrosis (carrier frequency 1 in 25)
- Spinal Muscular Atrophy-SMA (carrier frequency 1 in 50)
- Polycystic Kidney Disease-PKD (carrier frequency 1 in 70)
- Non-syndromic Hearing Impairment (carrier frequency 1 in 80)
- Mucopolysaccharidosis (carrier frequency 1 in 80)
- Gaucher disease (carrier frequency 1 in 200)
- Fragile X syndrome (carrier frequency 1 in 250)
- Retinitis Pigmentosa
- Intellectual disabilities
- Autism spectrum and others
PreDNA Test, performed at Science Labs, thoroughly analyses 569 genes related to over 300 genetic disorders, requiring a single, standard blood draw, applying a single test, done at our lab. In this way, without going through complex procedures, you gain valuable information, in a timely manner and at a much lower cost compared to sequential single gene testing.
What actions could be taken when both parents are mutation carriers for the same disease?
If both parents happen to be carriers for a pathogenic mutation in the same gene, it is recommended to consult a specialist concerning their options in order to give birth to an unaffected child:
• Prenatal Diagnosis may be scheduled, so timely decisions can be made concerning the pregnancy or to prepare for the future.
• Some couples may opt in for Preimplantation Genetic Diagnosis (PGD) and embryo selection by entering an appropriate IVF program and thus avoid the birth of an affected child.
• Other couples, entering an IVF program, may choose the alternative of a sperm/egg donor.
• Finally, there are couples who may consider adoption.
What is PreDNA Test, Science Labs’ Advanced Mutation Carrier Screening?
When considering having a family, PreDNA Test is a meaningful, powerful test, since it helps determine the risk of having a child affected by an inherited disease. The test reveals parents who are mutation carriers for one or more recessively inherited disorders.
In this type of genetic disorders, the majority of mutation carriers are healthy individuals. But when both parents carry a disease causing mutation in the same gene, they are high risk for having a sick child.
Who is fit for taking the PreDNA Test?
Everyone has mutations in some of their genes and PreDNA Test enables to find out whether these mutations can cause diseases in their children. Everyone can do the test but it’s particularly recommended for:
• Couples planning to have a child, prior to spontaneous conception. All women considering becoming mothers could take the test, to gain the knowledge of their risk of having an affected child. Ideally, both future parents could be tested.
• Couples entering an IVF program. Revealing the risk of transmitting pathogenic mutations helps better select the fittest management to avoid the birth of a sick child.
• Potential sperm/egg donors in order to choose the fittest candidate, which would be the one not carrying disease causing mutations in the same genes as the partner contributing their sperm or eggs.
Why should one do the PreDNA Test?
In most cases, parents realize that they are carriers for serious genetic abnormalities only after already having an affected child. Genetic abnormalities are not curable, at present, but they can be prevented.
Anyone may be a disease causing mutation carrier. Even though carriers may seem normal, if both parents carry a pathogenic mutation in the same gene, there is a 25% risk of having an affected child.
According to the World Health Organization (WHO), the prevalence of this type of disease is 1% in newborns. It is also estimated that they represent 20% of causes of fetal demise in developed countries and 18% of reasons for admission to children’s hospitals, worldwide.
PreDNA Test covers a broad spectrum of mutations in 569 genes, which are related to more than 300 severe or less severe genetic conditions. These include all genetic disorders recommended to be tested for during pregnancy, by obstetrics/gynecology and geneticists’ societies.