The panel determines whether you are at an increased risk to develop more than 65 inherited conditions, including:

• Breast cancer
• Colorectal (bowel) cancer
• Cutaneous melanoma
• Gastric cancer
• Ovarian cancer
• Pancreatic cancer
• Prostate cancer
• Renal cell cancer
• Thyroid cancer
• Uterine cancer
• Additional hereditary cancer conditions

The full list of genes tested for and their related condition is below:

• Aortopathies
• Arrhythmias
• Cardiomyopathies
• Genetic forms of high blood pressure and
  high cholesterol
• Thrombophilia
• Additional hereditary cardiovascular conditions

The full list of genes tested for and their related condition is below:

This combined panel includes:

• Cancer Genetic Testing (65 Genes)
• Cardiovascular Genetic Screen (84 Genes)
• Other Genetic Conditions (18 Genes)

Other Genetic Conditions:

Our fertility screen looks for specific conditions that may impact male or female fertility.

Examples include the following:

• Chromosome (Karyotype) Analysis – looks at the microscopic appearance of a full set of chromosomes to see if there are any abnormalities, such as deletions or re-arrangements.  Many of these abnormalities are linked to subfertility and/or pregnancy loss.”
• Y-chromosome Microdeletions – are the second-most common cause of male infertility.  Specific gene deletions are screened that are directly linked to abnormal or no sperm production.
• Cystic Fibrosis – 139 common mutations. This test screens for 139 common mutations (pan-ethnically).  Some male infertility is related to specific CF gene mutations.  Affected women will find it more difficult to conceive due to thicker cervical mucus.
• Fragile X – associated Primary Ovarian Insufficiency (FXPOI) – premutations in the FMR1 gene are linked to lower anti-mullarian hormone (AMH) levels in women and therefore lower egg reserves (earlier menopause).

Carrier screening is recommended for people who are planning a family or are in the early stages of pregnancy. It can also be recommended to patients without any family history of genetic diseases. In fact, 80% of children born with a genetic condition have no family history of that disease. Carrier screening is an easy way to find out if changes in your DNA makes you more likely to have an affected child.

The London General Practice partners with HCA Laboratories and Fulgent Genetics to provide the Beacon Carrier Panel. It is a comprehensive, highly accurate carrier screen which provides patients with actionable information for reproductive planning. It uses next-generation sequencing and analysis to provide a minimum 98% detection rate for pathogenic or likely pathogenic mutations across all genes.

We recommend testing female partners first – since there are X-linked disorders in this panel that would not be included for males. However – if time is precious, both partners can be tested at the same time, and specific comments can then be made regarding the combined reproductive risk.

We offer a range of flexible testing options – from a panel solely focussed on Cystic Fibrosis, a simple 6-gene panel that includes Cystic Fibrosis, Fragile X Syndrome, Thalassemia, Sickle Cell Disease and Spinal Muscular Atrophy – to a full 436-gene expanded panel that covers recessive and X-linked genes.

We can organise genetic screening for many rare genetic conditions. Contact us for specific requests or for further information.