Genetic Testing
Types of Genetic Tests
Genetic Test Pricing
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WHAT IS GENETIC TESTING?
Genetic testing looks for changes in your DNA that can inform your medical care. These are sometimes called mutations or variants in your DNA. Our test providers have found that 16.1% of healthy adults carry a serious health related risk.
For healthy adults who wish to gain important, medically actionable insights based on their DNA, we offer proactive genetic testing.
Why might you need GENETIC TESTing?
Our tests will give you insights into important health risks you may, or may not, have based on genetic variants in your DNA.
The results of these tests will not tell you that you will develop a condition. Instead, these tests help you understand if you have an increased risk of developing a condition.
Your Doctor can recommend screening and prevention strategies that focus on those conditions that are identified as higher risk.
How Genetic Testing Works
- A half hour consultation will be booked where your Doctor will explain Genetic Testing, how it works and advise you of the most appropriate testing panel.
- Your blood sample will be sent to the laboratory for analysis. Genetic testing is typically done using a sample of blood, saliva, or tissue, however, we prefer a blood sample as this reduces the possibility of contamination.
- The Laboratory will test your DNA and the results will be sent directly to your Doctor.
- Your Doctor will discuss the results with you during your follow up appointment and where appropriate, plan a strategy to manage and minimise any identified risks.
Understanding your test results
The test helps uncover what your DNA says about your health by analysing genes related to a wide range of important health conditions. Understanding your genetic risks can help you and your doctor take steps to protect your health and build a proactive, and personalised plan focused on prevention. Depending on the condition, treatments could include medication, regular screening tests, or a change in lifestyle.
WHAT TYPES OF GENETIC TESTS ARE THERE?
Genetic Testing FAQ
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Proactive Genetic Health Screening
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Genetic Testing for Cancer
- 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:
| Gene(s) | Condition(s) | |
| APC | Colorectal, endocrine, gastric, nervous system/brain, and pancreatic cancer, sarcoma | |
| ATM | Breast, pancreatic, and prostate cancer | |
| AXIN2 | Colorectal cancer | |
| BAP1 | Renal/urinary tract cancer, melanoma | |
| BARD1 | Breast cancer | |
| BMPR1A | Colorectal, gastric, and pancreatic cancer | |
| BRCA1 | Breast, gynaecologic, pancreatic, and prostate cancer | |
| BRCA2 | Breast, gynaecologic, pancreatic, and prostate cancer, melanoma | |
| BRIP1 | Breast and gynaecologic cancer | |
| CDC73 | Endocrine and renal/urinary tract cancer | |
| CDH1 | Breast, colorectal, and gastric cancer | |
| CDK4 | Melanoma | |
| CDKN2A | Nervous system/brain and pancreatic cancer, melanoma | |
| CHEK2 | Breast, colorectal, endocrine, gynaecologic, and prostate cancer | |
| DICER1 | Endocrine, gynaecologic, nervous system/brain, and renal/ urinary tract cancer, sarcoma | |
| EPCAM | Colorectal, gastric, gynaecologic, nervous system/brain, pancreatic, prostate, and renal/urinary tract cancer | |
| FH | Renal/urinary tract cancer, sarcoma | |
| FLCN | Renal/urinary tract cancer | |
| GREM1 | Colorectal cancer | |
| HOXB13 | Prostate cancer | |
| KIT | Gastric cancer, sarcoma | |
| MAX | Endocrine cancer | |
| MEN1 | Endocrine, nervous system/brain, and pancreatic cancer | |
| MET | Renal/urinary tract cancer | |
| MITF | Melanoma | |
| MLH1 | Colorectal, gastric, gynaecologic, nervous system/brain, pancreatic, prostate, and renal/urinary tract cancer | |
| MSH2 | Colorectal, gastric, gynaecologic, nervous system/brain, pancreatic, prostate, and renal/urinary tract cancer | |
| MSH3 | Colorectal cancer, includes reporting of carrier status | |
| MSH6 | Colorectal, gastric, gynaecologic, nervous system/brain, pancreatic, prostate, and renal/urinary tract cancer | |
| MUTYH | Colorectal cancer | |
| NBN | Breast and prostate cancer | |
| NF1 | Breast, endocrine, gastric, and nervous system/brain cancer | |
| NF2 | Nervous system/brain cancer | |
| NTHL1 | Colorectal cancer, includes reporting of carrier status | |
| PALB2 | Breast and pancreatic cancer | |
| PDGFRA | Gastric cancer, sarcoma | |
| PMS2 | Colorectal, gastric, gynaecologic, nervous system/brain, pancreatic, prostate, and renal/urinary tract cancer | |
| POLD1 | Colorectal cancer | |
| POLE | Colorectal cancer | |
| PRKAR1A | Endocrine and nervous system/brain cancer, sarcoma | |
| PTCH1 | Nervous system/brain and skin cancer, sarcoma | |
| PTEN | Breast, colorectal, endocrine, gynaecologic, nervous system/brain and, renal/urinary tract cancer, melanoma | |
| RAD51C | Breast and gynaecologic cancer | |
| RAD51D | Breast and gynaecologic cancer | |
| RB1 | Melanoma, retinoblastoma, sarcoma | |
| RET | Endocrine cancer | |
| SDHA | Endocrine and gastric cancer, sarcoma | |
| SDHAF2 | Endocrine cancer | |
| SDHB | Endocrine, gastric, and renal/urinary tract cancer, sarcoma | |
| SDHC | Endocrine, gastric, and renal/urinary tract cancer, sarcoma | |
| SDHD | Endocrine, gastric, and renal/urinary tract cancer, sarcoma | |
| SMAD4 | Colorectal, gastric, and pancreatic cancer | |
| SMARCA4 | Gynaecologic cancer | |
| SMARCB1 | Nervous system/brain and renal/urinary tract cancer | |
| STK11 | Breast, colorectal, gastric, gynaecologic, and pancreatic cancer | |
| TMEM127 | Endocrine cancer | |
| TP53 | Breast, endocrine, gastrointestinal, genitourinary, gynaecologic, hematologic, nervous system/brain, and skin cancer, sarcoma | |
| TSC1 | Nervous system/brain, pancreatic, and renal/urinary tract cancer | |
| TSC2 | Nervous system/brain, pancreatic, and renal/urinary tract cancer | |
| VHL | Endocrine, nervous system/brain, pancreatic, and renal/urinary tract cancer | |
| WT1 | Renal/urinary tract cancer |
Cardiomyopathy – diseases of the heart
The panel determines whether you are at an increased risk to develop more than 45 inherited conditions, including:
- 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:
| Gene(s) | Condition(s) | |
| ACTA2 | Aortopathy | |
| ACTC1 | Cardiomyopathy, congenital heart disease | |
| ACTN2 | Arrhythmia, cardiomyopathy | |
| ACVRL1 | Hereditary hemorrhagic telangiectasia, pulmonary arterial hypertension | |
| APOB | Familial hypercholesterolemia, familial hypobetalipoproteinemia | |
| BAG3 | Cardiomyopathy, neuromuscular condition | |
| BMPR2 | Pulmonary arterial hypertension | |
| CACNA1C | Arrhythmia, cardiomyopathy, congenital heart disease | |
| CACNB2 | Arrhythmia | |
| CALM1 | Arrhythmia | |
| CALM2 | Arrhythmia | |
| CALM3 | Arrhythmia | |
| CASQ2 | Arrhythmia, includes reporting of carrier status | |
| CAV1 | Pulmonary arterial hypertension | |
| CAV3 | Arrhythmia, cardiomyopathy, neuromuscular condition | |
| COL3A1 | Aortopathy | |
| CRYAB | Cardiomyopathy, neuromuscular condition | |
| CSRP3 | Cardiomyopathy | |
| DES | Arrhythmia, cardiomyopathy, neuromuscular condition | |
| DMD | Cardiomyopathy, neuromuscular condition | |
| DSC2 | Arrhythmia, cardiomyopathy | |
| DSG2 | Arrhythmia, cardiomyopathy | |
| DSP | Arrhythmia, cardiomyopathy | |
| EMD | Arrhythmia, cardiomyopathy, neuromuscular condition | |
| ENG | Hereditary hemorrhagic telangiectasia, pulmonary arterial hypertension | |
| F2 | Hereditary thrombophilia | |
| F5 | Hereditary thrombophilia | |
| F9 | Hemophilia, hereditary thrombophilia | |
| FBN1 | Aortopathy | |
| FHL1 | Cardiomyopathy, neuromuscular condition | |
| FLNC | Cardiomyopathy, neuromuscular condition | |
| GDF2 | Hereditary hemorrhagic telangiectasia | |
| GLA | Cardiomyopathy, lysosomal storage disease | |
| GPD1L | Arrhythmia | |
| HCN4 | Arrhythmia, cardiomyopathy | |
| JUP | Arrhythmia, cardiomyopathy | |
| KCNE1 | Arrhythmia | |
| KCNE2 | Arrhythmia | |
| KCNH2 | Arrhythmia | |
| KCNJ2 | Arrhythmia | |
| KCNQ1 | Arrhythmia | |
| LAMP2 | Cardiomyopathy, glycogen storage disease | |
| LDLR | Familial hypercholesterolemia | |
| LDLRAP1 | Familial hypercholesterolemia, includes reporting of carrier status | |
| LMNA | Arrhythmia, cardiomyopathy, neuromuscular condition | |
| MYBPC3 | Cardiomyopathy | |
| MYH11 | Aortopathy | |
| MYH7 | Cardiomyopathy, neuromuscular condition | |
| MYL2 | Cardiomyopathy | |
| MYL3 | Cardiomyopathy | |
| MYLK | Aortopathy | |
| NKX2-5 | Arrhythmia, congenital heart disease | |
| PCSK9 | Familial hypercholesterolemia | |
| PKP2 | Arrhythmia, cardiomyopathy | |
| PLN | Arrhythmia, cardiomyopathy | |
| PRKAG2 | Arrhythmia, cardiomyopathy | |
| PRKG1 | Aortopathy | |
| PROC | Hereditary thrombophilia | |
| PROS1 | Hereditary thrombophilia | |
| RBM20 | Arrhythmia, cardiomyopathy | |
| RYR2 | Arrhythmia, cardiomyopathy | |
| SCN5A | Arrhythmia, cardiomyopathy | |
| SERPINC1 | Hereditary thrombophilia | |
| SGCD | Cardiomyopathy, neuromuscular condition | |
| SMAD3 | Aortopathy | |
| SMAD4 | Hereditary hemorrhagic telangiectasia | |
| TCAP | Cardiomyopathy, neuromuscular condition | |
| TGFB2 | Aortopathy | |
| TGFB3 | Aortopathy, arrhythmia, cardiomyopathy | |
| TGFBR1 | Aortopathy, multiple self-healing squamous epithelioma | |
| TGFBR2 | Aortopathy | |
| TMEM43 | Arrhythmia, cardiomyopathy | |
| TNNC1 | Cardiomyopathy | |
| TNNI3 | Arrhythmia, cardiomyopathy | |
| TNNT2 | Arrhythmia, cardiomyopathy | |
| TPM1 | Cardiomyopathy | |
| VCL | Cardiomyopathy |
Metabolic disorders
When we test for cancer and cardiomyopathy combined we also screen for the following metabolic disorders:
| Gene(s) | Condition(s) | |
| ATP7B | Wilson disease, includes reporting of carrier status | |
| CACNA1S | Hypokalemic periodic paralysis, malignant hyperthermia susceptibility | |
| HAMP | Hereditary hemochromatosis, includes reporting of carrier status | |
| HFE | Hereditary hemochromatosis, includes reporting of carrier status | |
| HJV | Hereditary hemochromatosis, includes reporting of carrier status | |
| OTC | Ornithine transcarbamylase deficiency | |
| RYR1 | Malignant hyperthermia susceptibility, neuromuscular condition | |
| SERPINA1 | Alpha-1 antitrypsin deficiency, includes reporting of carrier status | |
| SLC40A1 | Hereditary hemochromatosis | |
| TFR2 | Hereditary hemochromatosis, includes reporting of carrier status |
Other Types of Genetic Testing Available
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Fertility
Our fertility screen looks for specific conditions that may impact male or female fertility.
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 – 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).
Prospective Parents – Carrier Screening
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.
Rare Genetic conditions
We can organise genetic screening for any rare genetic condition.
GENETIC TESTING
Cancer and Cardio
| Genetic testing alone | If included with Essential Health + or Advanced Screening | If taken as an additional test | |||
| Cancer gene panel - 61 genes | £1,025 | £750 | £620 | ||
| Cardiomyopathy heart health gene panel - 77 genes | £1,025 | £750 | £620 | ||
| Combined Cancer and Cardio Health Screen - 147 genes | £1,200 | £950 | N/A |
Fertility screening
| Chromosome Y Deletions | £800 | £525 | £395 | ||
| Chromosome Karyotype | £950 | £700 | £570 | ||
| Cystic Fibrosis Screen | £800 | £550 | £420 | ||
| Fragile X | £800 | £525 | £390 |
Carrier screening for prospective parents
| Cystic Fibrosis Carrier Screen | £800 | £550 | £420 | Common carrier - 6 genes | £950 | £675 | £545 |
| Ashkenazi - up to 61 genes | £1,025 | £750 | £620 | ||
| Expanded carrier screen - up to 436 genes | £1,075 | £800 | £670 |
* For a test done covering a specific named condition.
Individually priced depending on condition
GENETIC TESTING
Cancer and Cardio
CANCER GENE PANEL – 61 GENES
| Genetic testing alone | If included with Essential Health + or Advanced Screening | If taken as an additional test |
| £1,025 | £750 | £620 |
| Genetic testing alone | If included with Essential Health + or Advanced Screening | If taken as an additional test |
| £1,025 | £750 | £620 |
| Genetic testing alone | If included with Essential Health + or Advanced Screening | If taken as an additional test |
| £1,200 | £950 | N/A |
Fertility screening
| Genetic testing alone | If included with Essential Health + or Advanced Screening | If taken as an additional test |
| £800 | £525 | £395 |
| Genetic testing alone | If included with Essential Health + or Advanced Screening | If taken as an additional test |
| £950 | £700 | £570 |
| Genetic testing alone | If included with Essential Health + or Advanced Screening | If taken as an additional test |
| £800 | £550 | £420 |
| Genetic testing alone | If included with Essential Health + or Advanced Screening | If taken as an additional test |
| £800 | £525 | £390 |
Carrier screening for prospective parents
| Genetic testing alone | If included with Essential Health + or Advanced Screening | If taken as an additional test |
| £800 | £550 | £420 |
| Genetic testing alone | If included with Essential Health + or Advanced Screening | If taken as an additional test |
| £950 | £675 | £545 |
| Genetic testing alone | If included with Essential Health + or Advanced Screening | If taken as an additional test |
| £1,025 | £750 | £620 |
| Genetic testing alone | If included with Essential Health + or Advanced Screening | If taken as an additional test |
| £1,075 | £800 | £670 |
*If included with Essential Health + or Advanced Screening annual health screen programmes.
For a test done covering a specific named condition. Individually priced depending on condition
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Health Screening Enquiry
Phone: +44 (0)20 7935 1000
Email: info@thelondongeneralpractice.com
The London General Practice offers a number of screening services. To find out more about all screening services available at The London General Practice click below.
