Clinical Indication ID & Name
Brugada syndrome and cardiac sodium channel disease
Test Group
Cardiology
Specialties
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
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