Clinical Indication ID & Name
Short QT Syndrome
Test Group
Cardiology
Specialties
Test code
R130.1
Test name
N/A
Target genes
Short QT Syndrome (224)
Test scope
n/a
Test method/ technology
Small panel
Optimal Family Structure
n/a
Eligibility Criteria
A firm clinical diagnosis of Short QT syndrome, as indicated by:
1. A QTc ≤330 ms, OR
2. A QTc <360 ms, AND one or more of the following:
a. Family history of SQTS,
b. Family history of sudden death at age ≤40
c. Survival of a VT/VF episode in the absence of heart disease
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
R130.2
Test name
N/A
Target genes
Short QT Syndrome (224)
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 Short QT syndrome, as indicated by:
1. A QTc ≤330 ms, OR
2. A QTc <360 ms, AND one or more of the following:
a. Family history of SQTS,
b. Family history of sudden death at age ≤40
c. Survival of a VT/VF episode in the absence of heart disease
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
Rare Disese WGS Clinician pack
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