Clinical Indication ID & Name
Long QT Syndrome
Test Group
Cardiology
Specialties
Test code
R127.1
Test name
N/A
Target genes
Long QT Syndrome (76)
Test scope
n/a
Test method/ technology
Small panel
Optimal Family Structure
n/a
Eligibility Criteria
A firm clinical diagnosis of Long QT syndrome, as indicated by:
1. QTc ≥500ms in repeated 12-lead ECGs, OR
2. LQTS risk score ≥3.5 (Schwartz et al, 2011. PMID: 22083145), OR
3. QTc ≥480 ms in repeated 12-lead ECGs AND an unexplained syncopal episode
4. QTc ≥480 ms in repeated 12-lead ECGs AND a history of sudden unexplained death under the age of 60 in a first / second degree relative
A secondary cause for QT prolongation should be excluded prior to testing
Testing should be carried out in parallel with expert phenotypic assessment, for example in an Inherited Cardiac Clinic (ICC), including support from clinical genetics; testing may occasionally be appropriate outside these criteria following discussion in an ICC MDT.
Test code
R127.2
Test name
N/A
Target genes
Long QT Syndrome (76)
Test scope
n/a
Test method/ technology
Exon level CNV detection by MLPA or equivalent
Optimal Family Structure
n/a
Eligibility Criteria
A firm clinical diagnosis of Long QT syndrome, as indicated by:
1. QTc ≥500ms in repeated 12-lead ECGs, OR
2. LQTS risk score ≥3.5 (Schwartz et al, 2011. PMID: 22083145), OR
3. QTc ≥480 ms in repeated 12-lead ECGs AND an unexplained syncopal episode
4. QTc ≥480 ms in repeated 12-lead ECGs AND a history of sudden unexplained death under the age of 60 in a first / second degree relative
A secondary cause for QT prolongation should be excluded prior to testing
Testing should be carried out in parallel with expert phenotypic assessment, for example in an Inherited Cardiac Clinic (ICC), including support from clinical genetics; testing may occasionally be appropriate outside these criteria following discussion in an ICC MDT.
Commissioning group
Specialised
Overlapping idications
n/a
Address for samples/request forms
North Thames GLH, Rare & Inherited Disease Genomic Laboratory
Specimen Reception, Level 5 Barclay House, 37 Queen Square,
London WC1N 3BH
Contact with queries
Supporting documents
n/a
Education resources
n/a
Service updates
n/a
Request form download
Consent record
See consent guidance in test request form
Sample requirements
See sample guidance in test request form