Request / Find a Test Tool

The National Genomic Test Directories specify which genomic tests are commissioned by the NHS in England, to be delivered by Genomic Laboratory Hubs.

This tool allows clinical teams to search all of the genomic tests available to patients through the National Testing Directory. From here you can find out more details about each test and information about how to order them. These tests can only be ordered by clinical teams, if you are a patient looking to request a test please speak to your clinical team directly.

Short QT Syndrome

Clinical Indication ID & Name

R130

Short QT Syndrome

Test Group

Cardiology

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

gos-tr.norththamesgenomics@nhs.net

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