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Please continue to use the test directory below. The National Genomic Test Directories specify which genomic tests are commissioned by the NHS in England, to be delivered by Genomic Laboratory Hubs.

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Clinical Indication ID & Name

R128

Brugada syndrome and cardiac sodium channel disease

Test Group

Cardiology

Test code

R128.1

Test name

N/A

Target genes

Brugada syndrome (13)

Test scope

n/a

Test method/ technology

Small panel

Optimal Family Structure

n/a

Eligibility Criteria

A firm clinical diagnosis of Brugada syndrome and/or sodium channel disease, as indicated by:
1. Spontaneous type 1 (“coved-type”) ST-segment elevation (characterized by ST-segment elevation ≥2 mm (0.2 mV) in ≥1 right precordial leads (V1–V3) positioned in the 4th, 3rd, or 2nd intercostal space),
OR
2. Type 1 ST-segment elevation unmasked using a sodium channel blocker, AND 1 of the following:
a. Documented VF or polymorphic VT, OR
b. Syncope of probable arrhythmic cause, OR
c. A family history of sudden cardiac death at <45 years old with negative autopsy, OR d. A coved-type ECGs in family members, OR e. Nocturnal agonal respiration OR f. Premature atrial arrhythmias at age <30 years 3. Suspicion of sodium channel disease including atrial arrhythmias, sinus node dysfunction, conduction disease and/or QT prolongation, predominantly in children and young people. NOTE: Clinical evaluation in young probands and cascade testing in families will incorporate assessment for other features of sodium channel disease such as sinus node disease, atrial arrhythmias, conduction disease, dilated cardiomyopathy and long QT syndrome (LQT3 subtype) that may coexist with or supplant type 1, 2 or 3 Brugada ECG patterns. Brugada ECG patterns may be present even in sodium channel genotype negative patients. 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

R128.2

Test name

N/A

Target genes

Brugada syndrome (13)

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 Brugada syndrome and/or sodium channel disease, as indicated by:
1. Spontaneous type 1 (“coved-type”) ST-segment elevation (characterized by ST-segment elevation ≥2 mm (0.2 mV) in ≥1 right precordial leads (V1–V3) positioned in the 4th, 3rd, or 2nd intercostal space),
OR
2. Type 1 ST-segment elevation unmasked using a sodium channel blocker, AND 1 of the following:
a. Documented VF or polymorphic VT, OR
b. Syncope of probable arrhythmic cause, OR
c. A family history of sudden cardiac death at <45 years old with negative autopsy, OR d. A coved-type ECGs in family members, OR e. Nocturnal agonal respiration OR f. Premature atrial arrhythmias at age <30 years 3. Suspicion of sodium channel disease including atrial arrhythmias, sinus node dysfunction, conduction disease and/or QT prolongation, predominantly in children and young people. NOTE: Clinical evaluation in young probands and cascade testing in families will incorporate assessment for other features of sodium channel disease such as sinus node disease, atrial arrhythmias, conduction disease, dilated cardiomyopathy and long QT syndrome (LQT3 subtype) that may coexist with or supplant type 1, 2 or 3 Brugada ECG patterns. Brugada ECG patterns may be present even in sodium channel genotype negative patients. 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

Clinical Genetics & Genomics Laboratory
Royal Brompton Hospital
2nd (Ground) Floor, Sydney Wing
Sydney Street
London SW3 6NP

Supporting documents

n/a

Education resources

n/a

Turn around times

All our turnaround times are listed on our specific turn around page https://southeastgenomics.nhs.uk/professionals/service-turn-around-times/

Consent record

See consent guidance in test request form

Sample requirements

Samples may be rejected for the following reasons: 1.Samples and request form do not show at least three identical patient identifiers 2.The sample is in the incorrect collection media 3.The request form is not sufficiently completed 4.The sample is not of sufficient volume 5.The sample is too old