Long QT Syndrome (LQT)

Introduction

We simultaneously sequence 12 genes known to cause inherited long QT syndrome. We provide a comprehensive scientific interpretation of variants found and issue a report summarising our findings.

Referral information

For individuals with clinical features and investigations consistent with published criteria for LQT (Circulation 1993;88:782-784.). On identification of a pathogenic change in an index case presymptomatic testing of relatives can be offered. Referrals for testing are only accepted from a Consultant Cardiologist or a Consultant Clinical Geneticist (please contact the Clinical Genetics department for specific information). Referrals should be accompanied by a clinical diagnosis and details of family history. Referrals should also be accompanied by a completed standard referral form available in the Referral Forms section. For optimal results please send a fresh EDTA blood sample (1-4ml) or a minimum of 5µg of extracted DNA. For a full list of genes included in the assay please contact the laboratory.

Price & reporting times

Please contact the laboratory for prices.

Test	Price (NHS)	Price (non-NHS)	TRT
Long QT Syndrome (12 gene) panel	POA	POA	112cd
Bioinformatic Re-analysis	POA	POA

Test validation & quality assurance - information for users

The laboratory is UKAS assessed against ISO 15189 standards.

Sample requirements

4ml EDTA blood sample

Referral guidelines

Please see our referral guidelines for more information.

OMIM Number(s) - 604001, 106410, 114205, 176261, 603796, 152427, 600681, 600734, 607542, 608256, 600163, 601017

Gene(s) - AKAP9, ANK2, CACNA1C, KCNE1, KCNE2, KCNH2, KCNJ2, KCNJ5, KCNQ1, SCN4B, SCN5A, SNTA1