Genetic Testing

The London General Practice works closely with our laboratory partners and Genetic Counsellors to provide state of the art 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?

At The London General Practice we offer test panels that can be taken separately, at the same time or as part of one of our Health Screening services.

Genetic Testing FAQ

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Genetic Screening

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Cancer Genetic Testing

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:

Gene(s) Condition(s)
AIP Endocrine cancer
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
EGFR Lung cancer
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
LZTR 1 Nervous system / brain cancer
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
POT 1 Melanoma / brain 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
Cardiovascular Genetic Testing
The panel determines whether you are at an increased risk to develop more than 84 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
COL5A1 Aortopathy
COL5A2 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
SMAD9 Pulmonary arterial hypertension
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
TRDN Arrhythmia
TTN Cardiomyopathy
TTR Cardiomyopathy, neuromuscular condition
VCL Cardiomyopathy
Combined Genetic Profile

This combined panel includes:

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

Other Genetic Conditions:

Gene(s) Condition(s)
ABCD1 X-linked adrenoleukodystrophy
ATP7B Wilson disease, includes reporting of carrier status
BTD Biotinidase deficiency, includes reporting of carrier status
G6PD Red blood cell enzymopathies
GAA Glycogen storage disease type II (Pompe), incl. includes reporting of carrier status
GCH1 Dystonia
HAMP Hereditary hemochromatosis, includes reporting of carrier status
HFE Hereditary hemochromatosis, includes reporting of carrier status
HJV Hereditary hemochromatosis, includes reporting of carrier status
HMBS Acute intermittent porphyria
HNF1A Maturity onset diabetes of the young
HNF1B Renal cysts and diabetes syndrome
MEFV Familial Mediterranean fever
OTC Ornithine transcarbamylase deficiency
RPE65 Inherited retinal dystrophy
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.

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).
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 many rare genetic conditions. Contact us for specific requests or for further information.

GENETIC TESTING

Prices below do not include consultation fees.

Cancer and Cardiovascular Genetic Testing

   
Cancer gene panel - 65 genes £615
Cardiovascular Gene Panel - 84 genes £615
Combined Gene Panel - 167 genes £825

Fertility screening

Examples include the following:

Chromosome Y Microdeletions £335
Chromosome Analysis (Karyotype) £615
Cystic Fibrosis - 139 common mutations £385
Fragile X Syndrome £453

Price on application for other tests not listed here.

 

Carrier screening for prospective parents

Common Diseases Carrier Screen
Screening of CFTR + FMR1 + HBA1 + HBA2 + HBB + SMN1
£565
Ashkenazi Jewish Carrier Screen
Screening up to 61 genes associated with conditions within the Ashkenazi Jewish population
£695
Expanded Pan-ethnic Carrier Screen
Screening up to 436 genes associated with recessive and X-linked disorders in people of all ethnic backgrounds
£638

Price on application for other tests not listed here.

 

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+ 44 (0)207 935 1000

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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.

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