• Skip to primary navigation
  • Skip to main content

East Genomics

Bringing together genomic medicine across the East Midlands and East of England

  • Home
  • About Us
  • News
    • News and Events
    • Recent News
  • Ask
    • Ask a Question
    • Your Questions Answered
      • 100,000 Genomes Project
      • Confidentiality and Ethics
      • Genetics and Genomics
      • Genetics and Inheritance
      • Genetic Manipulation
      • Governance around supporting Patients and the Public
      • Impact of environment and behaviour on cancer
      • NHS provision for cancer, inherited disease and infectious diseases
      • Talking to Families
      • When testing identifies variations…
  • 100,000 Genomes Project
    • 100,000 Genomes Project
    • East of England NHS Genomic Medicine Centre
    • Healthcare Professionals
    • Participants
  • Education
    • Education
    • Cambridge Genomics
      • Cambridge CPPD Modules
      • Gateway to Genetic Counselling
    • National Programme
    • Careers in Genomics
    • Online Courses
    • Regional Opportunities
    • Schools
  • Care
    • Cambridge/East Anglia
    • Leicester
    • Norwich
    • Nottingham
    • Patient Groups
  • Resources
    • Films and Books
    • Leaflets,Posters & Flyers
  • Research and Innovation
    • Innovation
    • Next Generation Children Project
  • HEALTHCARE PROFESSIONALS
    • East Genomic Laboratory Hub
      • East GLH Contact Information
      • East GLH Trusts
    • Patient Choice – Consent Framework
    • Rare and Inherited Disease
      • Order a Test
      • Prenatal Testing
      • Familial Hypercholesterolemia
      • Cystic Fibrosis GP Carrier Testing
      • Training Sessions – Rare and Inherited Disease
    • Cancer Testing
      • Solid Tumour Test Request Form
    • Drug Response Testing
      • DPD for 5-fluorouracil toxicity

Familial Hypercholesterolemia

You are here: Home / Familial Hypercholesterolemia

Familial Hypercholesterolemia

Familial Hypercholesterolemia (FH) is a genetic condition that results in abnormally high total and LDL cholesterol levels in the blood that increase an individuals risk of developing cardiovascular disease. The early detection and management of patients with FH reduces risk of premature cardiovascular disease.

Genomic Testing for Familial Hypercholesterolemia

Genomic testing can identify genetic variants in genes that cause FH or other genetic conditions that can cause high cholesterol levels.

FH shows an autosomal dominant pattern of inheritance. This means that children have a 1 in 2 chance of inheriting FH if one of their parents is affected. Once a FH gene variant has been identified in a patient, cascade testing can be used to identify family members with the same condition.

Ordering a Familial Hypercholesterolemia Genomic Test

Check you patient is eligible for FH genomic testing: Rare and Inherited Disease Test Directory Eligibility Criteria.

Download our FH test order form here:

Download PDF – FH test order form
Download WORD – FH test order form

The East GLH FH test will identify and report genetic variants associated with monogenic disease. The FH polygenic SNP score is not included in the Genomic Medicine Service commissioned FH test. Contact the Cambridge University Hospitals Genomic Laboratory for more information:
geneticslaboratories@nhs.net and include ‘FH’ in the subject heading.

Patient Choice – Consent 

An appropriate discussion of genomic testing and the possible implications for a patient and their family members must take place prior to testing.  A record of this discussion must be retained within the patient record when a genomic test is ordered.

Find more information, including details of the East GLH Patient Choice Consent Framework online training program on our Patient Choice webpage.

Download our recommended record of discussion form here:
Download – East GLH Record of Discussion Form

Familial Hypercholesterolemia Resources

Find useful resources for patients and family members on the British Heart Foundation and Heart UK websites.

 

 

East of England NHS Genomic Medicine Centre

  • Terms and Conditions
  • Website Disclaimer
  • Privacy Policy

Copyright © 2021 · Showcase Pro on Genesis Framework · WordPress · Log in