Hereditary Cancer Testing

What is Hereditary Cancer Testing?

Hereditary cancer is defined as cancer that has been caused by an inherited genetic variant. Inheriting certain genetic variants does not necessarily mean that cancer will develop, but the lifetime risk is significantly increased, and it is estimated that 5-10% of all cancers are caused by an inherited genetic predisposition.

Genetic testing can identify genetic variants associated with an inherited genetic predisposition to developing certain cancers.

Why Choose Spencer Medical for Your Testing?

We don't just test your blood, we talk to you. We understand your invoice circumstances and your fears. We refer to our expert in genetic risk testing and counselling and she treats you as an individual, not a statistic.
Personalised Pre-Test Consultation – Speak with our consultant Sarah Beck to ensure the test you choose is right for you.
Convenient Sample Collection – Receive a simple, discreet collection kit delivered to your home.
Easy Return Process – Send your sample back using our prepaid, hassle-free service.
Reliable Turnaround – Results are processed at a UKAS-accredited laboratory and shared promptly.
Expert Post-Test Support – HCPC-registered clinical scientists review your results and provide guidance, recommendations, or onward referrals if needed.
Peace of Mind for Your Family – Your results may inform testing decisions for relatives.
Future-Proof Reporting – If new research offers additional insights, your report is updated without requiring a new sample.

Why Consider Hereditary Cancer Testing?

Detection of a gene variantallows individuals to:

Make informed lifestyle adjustments.
Access enhanced screening programs for earlier detection.
Consider risk-reducing interventions or surgeries, if appropriate.
Help family members make informed decisions about their own health.

At Spencer Medical, all testing services are fully supported by our experienced GCRB - and AHCS-registered Genetic Counsellor. Unlike many private providers, we offer pre- and post-test consultations, ensuring you and your family fully understand any increased risks and how to manage them.

What Happens Next?

Book Your Appointment

Choose one of two options:

Consultation Only – £150
Discuss your personal and family history, hereditary cancer risks, and whether testing is right for you. No test kit is sent unless you decide to proceed later.
Complete a detailed health and lifestyle questionnaire

After payment, you will receive a confirmation email with a link to schedule your consultation.

Pre-Test Consultation

Sarah will:

Recommend the most suitable test.
Answer any questions about hereditary cancer risks, testing, and next steps.

Receive Your Test Kit (if applicable)

A discreet saliva collection kit will be sent to your home with clear instructions – follow these carefully to avoid needing a repeat test.

Sample Analysis

Your sample is analysed at a UKAS-accredited laboratory, and a detailed hereditary cancer risk report is prepared.

Post-Test Review

Sarah will:

Explain your results in detail.
Provide personalised recommendations and guidance.
Offer referrals to your healthcare provider if necessary.
Update your report automatically if new research offers additional insights.

Understanding Your Results

Your report may fall into one ofthree categories:

Increased Risk Identified
‍A genetic change has been detected, increasing your likelihood of developing certain cancers. This does not mean cancer is certain, only that your risk is higher than average.
No Significant Variant Found
‍No concerning changes were detected. Your risk is likely similar to the general population. Remember, lifestyle, environment, and age also influence cancer risk.
Variant of Uncertain Significance (VUS)
A genetic change was found, but its impact on cancer risk is not yet known. Most VUS results are eventually classified as harmless. We will update your report automatically if new research clarifies its significance.

What Genes are included?

Comprehensive Hereditary Cancer Panel

APC, ATM¹, BAP1, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A, CHEK2², EPCAM³, HOXB13, MLH1, MSH2, MSH6, MUTYH, NF1, NTHL1, PALB2, PMS2⁴, POLD1, POLE, PTEN, RAD51C, RAD51D, SMAD4, STK11, TP53, VHL

Hereditary Breast Cancer Panel

ATM¹, BARD1, BRCA1, BRCA2, CHEK2², PALB2, PTEN, RAD51C, RAD51D, STK11, TP53

Hereditary Breast and Ovarian Cancer Panel

ATM¹, BARD1, BRCA1, BRCA2, BRIP1, CHEK2², EPCAM³, MLH1, MSH2, MSH6, PALB2, PTEN, RAD51C, RAD51D, STK11, TP53

Hereditary Prostate Cancer

ATM¹, BRCA1, BRCA2, CHEK2², EPCAM³, HOXB13, MLH1, MSH2, MSH6

Hereditary Colorectal Cancer (including Lynch syndrome) Panel

APC, BMPR1A, EPCAM³, MLH1, MSH2, MSH6, MUTYH, NTHL1, PMS2⁴, POLD1, POLE, PTEN, SMAD4, STK11, TP53

Hereditary Melanoma Cancer Panel

BAP1, BRCA2, CDK4, CDKN2A, PTEN

Hereditary Pancreatic Cancer Panel

APC, BRCA1, BRCA2, CDKN2A EPCAM³, MLH1, MSH2, MSH6, PALB2, STK11, TP53, VHL

Target region for all genes includes full coverage of exons and exon/intron boundaries up to +/- 20bp.
Panel does not cover promoter, 5' or 3' UTR.
CNV calling does not include VHL, HOXB13, POLDI, NF1 and NTHL1 genes.
Interpretation is based on the MANE transcript.
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¹Reporting is restricted to the truncating or frameshift variants only and c.7271T>G variants in ATM.
²Truncating or frameshift variants in CHEK2.
³Exon deletion of exon 8 to 9 of EPCAM.
⁴PMS2 and its pseudogene PMS2CL share high sequence homology for exons 12-15. This test does not distinguish whether variants seen in PMS2 originate from PMS2 or PMS2CL. Further testing may be required to disambiguate any variants found in exon 12-15 of PMS2.

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