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 allows performing a focused screening of a specific number of genes and diseases – Panel 30 genes & 30 Genetic Conditions – £395

Please click here to access the list of genes screened

The Genescreen EASY test screens for a small number of genes identifying the most common and clinically relevant inherited genetic disorders – Panel 300 Genes & 600 Genetic Conditions – £595

Please click here to access the list of genes screened

The Genescreen STANDARD test includes the most common and clinically relevant pathologies, including disorders specific for individuals of Ashkenazi Jewish descent – Panel 550 Genes & 700 Genetic Conditions – £895

Please click here to access the list of genes screened

The Genescreen EXPANDED test screens for a wider number of genes and disorders, including those recommended by ACMG & ACOG and disorders specific for individuals of Ashkenazi Jewish descent – Panel 1,000 Genes & 1,400 Genetic Conditions – £1,095

Please click here to access the list of genes screened

The Genescreen EXOME test is the most complete study of clinical exome and provides a more uniform and solid performance over genes of clinical interest. This option allows a 100% coverage in coding regions of more than 4,000 genes & 5,000 Genetic Conditions – £1,295

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.

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. Each test covers mother or father, not both parents*

Results available 20 working days from the sample arriving in the lab – FOCUS test

Results available 25 working days from sample arriving in lab – EASY test

Results available 40 working days from sample arriving in lab – STANDARD, EXPANDED & EXOME Tests

*You will need to use a ‘private phlebotomy service’ to have your blood drawn (there will be a small charge for this) – a Google search will help you locate your nearest service. Some GP practices offer phlebotomy services however this varies regionally.

 

Please click here to view the brochure