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Oxford University Hospitals NHS Foundation Trust

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Next Generation Sequencing

TESTING

Diagnostic: Clinically affected patients.

Segregation Analysis: Clinically affected family members only.

Test for Familial Mutation/s: Patients at risk of developing Hypertrophic Cardiomyopathy.


REFERRALS

Samples should be accompanied by appropriate clinical details.

Pre-referral forms are available to download from our website, if required.

HCM Pre-referral form

DCM Pre-referral form

Familial Mutation Pre-referral form

  • Diagnostic referrals are accepted from Clinical Genetics, Cardiology and Consultants from other relevant specialties.
  • Referrals for familial mutation testing and segregation analysis are only accepted through Clinical Genetics Departments.
  • Clinical advice is available from Dr Edward Blair, Consultant Clinical Geneticist, Churchill Hospital, Oxford (ed.blair@ouh.nhs.uk)


SAMPLE REQUIREMENTS

  • 5-10ml venous blood in plastic EDTA bottles or >7ug DNA

 

TECHNICAL INFORMATION

  • Mutation screening of the coding regions and exon/intron boundaries of the genes listed above is carried out by Nextera, using the Illumina MiSeq next-generation sequencing platform.
  • All analysed bases are covered by a minimum of 30 reads. Additional analysis is undertaken by Sanger sequencing.

 

TARGET REPORTING TIMES AND COSTS*

Cardiomyopathy testing
(including HCM, DCM and ARVC)
Full panel

£1020*
60-80 working days
Familial mutation testing
£170
10 working days

 

*Non NHS patients are subject to a 15% surcharge and payment must be agreed prior to testing.


NGS SERVICES IN DEVELOPMENT

  • Arrythogenic right ventricular cardiomyopathy (ARVC)
  • Breast/ovarian cancer (BRCA1/BRCA2)
  • Joubert syndrome and related disorders (JSRD)
  • Cardiac arrhythmias
  • Inherited retinal degeneration
  • Inherited ataxias

Last updated 10 November 2015 by Claire Scott

 

DEPARTMENTS AND SERVICES