Genescreen

Description

Genescreen

Genescreen Identifies carriers of severe Genetic Disorders that can be transmitted to offspring – 5 levels off testing available

Carrier testing provides valuable health information when planning a family. Expectant parents, or couples planning a family, may be at risk for passing on severe genetic diseases, of which they are asymptomatic carriers, to their offspring.

For the majority of conditions tested, both copies of the gene need to have a gene change to cause symptoms. Therefore, a person who has a gene change in one copy of the gene is a carrier and most likely does not have any symptoms.

The only way to find out if a couple is carrier of a genetic disorder is to have genetic carrier testing.

TECHNOLOGY

Unlike older technology where only one gene could be tested at a time, uses state-of-the-art technology to perform a rigorous analysis of selected genes.

Genescreen is performed using highly advanced next generation sequencing (NGS) technology targeted to the nuclear and mitochondrial (mtDNA) genomes, with boosted coverage of medically relevant genes.

Genescreen unlike other carrier screening tests using targeted sequencing, performs full-exon sequencing of all the genes included on the panel, which allows a more comprehensive analysis of each gene and related diseases.

Who is the test aimed at ?

• Individuals with a family history of a genetic disease, who are therefore at higher risk of being carriers for those diseases; Individuals belonging to certain ethnicities with high risk of being carriers of hereditary recessive disorders. 

• For patients who are pursuing pregnancy with assisted reproductive technologies. Couples planning to start a family or to extend it, and are willing to know if they are carriers of monogenic recessive diseases that can be transmitted to their offspring.

• Couples requiring gamete donation, in order to select the most appropriate donor for each recipient (i.e. a donor that doesn’t carry the same mutation as the member of the couple who will provide the gametes), minimizing the reproductive risk.

• Couples who are already pregnant and who wish to know more about the genetic health of their pregnancy;

• Gamete banks or IVF clinics to analyse every egg or sperm donor, allowing also the recipients analysis to avoid high reproductive risk pregnancies.

• Anyone who wants to know if they are carrier of any condition included in the panel

Choice of tests available

The Genescreen FOCUS test screens for a specific number of genes and diseases – Panel of 30 genes & 30 Genetic Conditions with two testing options available:

One person panel – £395
Couples panel – £695

Please click here to access the list of genes screened

The Genescreen PROTECT test screens for a small number of genes identifying the most common and clinically relevant inherited genetic disorders – Panel of 120 Genes & 140 Genetic Conditions with two testing options available:

One person panel – £445
Couples panel – £845

Please click here to access the list of genes screened

The Genescreen EASY-DONOR test includes the most common and clinically relevant pathologies for couples going through IVF treatment. This panel is aligned with the IVF program of different countries – Panel of 400 Genes & 450 Genetic Conditions with one testing option available:

One person panel – £645

Please click here to access the list of genes screened

The Genescreen COMPLETE test screens for a wider number of genes and disorders, aimed at those with a family or medical history of health issues – Panel of 2,000 Genes & 2,100 Genetic Conditions with two testing options available:

One person panel – £845
Couples panel – £1455

Please click here to access the list of genes screened

REPORTING RESULTS:

• Clinical information evaluation
• Detailed method description
• Clear results of identified variants following international best-practice guidelines
• Clinical interpretation of sequencing findings
• References to publications supporting the medical and scientific results
• Recommendations for follow-up analyses for specific diseases

CLINICAL INTERPRETATION

The labs clinical geneticists evaluate the results from the sequence analysis pipeline in the context of phenotype information provided, and prepare the clinical statement.

Variants reported in the statement are classified according to the ACMG guidelines12.

GENETIC COUNSELLING

Genetic counselling is essential for any patient found to be a mutation-carrier for a genetic disorder.

As part of the Genescreen series of tests, genetic counselling is also available prior to purchase on any of the tests listed above. This process is to help identify the most appropriate Genescreen test for your needs and comes at no additional cost.

The laboratory will provide a genetic counselling session for those patients that screen positive and this service is included in the cost of the test.

It aids the patient in medical comprehension and enhances patient satisfaction by providing access to experts who are skilled at explaining genetic risks in terms patients can understand.

How is the test performed

10 ml Blood Sample for each client being tested.

Results available 20 working days from the sample arriving in the lab.

Buy online and have a mobile phlebotomist come to you for only £65.99!

Available across all of our blood tests, why not bring the convenience of a mobile phlebotomist to your home or place of work?

Simply add this test to your basket, select the ‘Mobile phlebotomy home/work service‘ option at checkout and we’ll post your test kit to an address of your choosing and send you a link via email to select the date, time and location of where the mobile phlebotomist will meet you. From there, we’ll arrange for your sample’s collection straight to the lab. It really is that simple!

Please click here to view the brochure