Download Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC)

UKGTN Testing Criteria
Test name:
Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) 6 Gene Panel
Approved name and symbol of disorder/condition(s):
See Appendix 1
OMIM number(s):
Approved name and symbol of gene(s):
See Appendix 1
OMIM number(s):
Patient name:
Date of birth:
Patient postcode:
NHS number:
Name of referrer:
Title/Position:
Lab ID:
Referrals will only be accepted from one of the following:
Referrer
Tick if this refers to
you.
Consultant Clinical Geneticist
Consultant Cardiologist
Minimum criteria required for testing to be appropriate as stated in the Gene Dossier:
Criteria
Tick if this patient
meets criteria
TWO of :
1. RV dilatation, functional impairment, or localised RV
aneurysm, in the absence of similar LV dysfunction.
2. Fibrofatty replacement of myocardium seen on biopsy
3. ECG shows prolongation of QRS focally in leads V1-V3
4. Family history of definite ARVC detected at autopsy/surgery
OR ONE of above, AND ONE OR MORE OF :
4. Mild RV dilatation, impairment, or focal RV hypokinesis in
presence of normal LV.
5. ECG shows inverted T waves in V2, V3, in absence of
RBBB, OR shows signal-averaged late potential.
6. LBBB-type VT, OR frequent Vent.ectopics (>1000/24hrs)
7. Close F.Hist. of sudden cardiac death <35yrs, suspected as
ARVD
OR NONE OF 1-3, but ALL of 4-7.
Additional Information:
For panel tests:
At risk family members where familial mutation is known do not require a full panel test but should be
offered analysis of the known mutation
If the sample does not fulfil the clinical criteria or you are not one of the specified types of
referrer and you still feel that testing should be performed please contact the laboratory to
discuss testing of the sample.
Approval Date: Sept 2014
Copyright UKGTN © 2014
Appendix 1: Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) 6 Gene Panel
Genes in panel test and associated conditions
Rows that are highlighted in yellow show where the gene is currently being fully analysed in the context of a single separate UKGTN test
HGNC standard
name and
symbol of the
gene
DSC2
HGNC
number
OMIM
number
OMIM standard name of
condition and symbol
Mode
of
inheritance
OMIM
number
Evidence of
association between
gene(s) and condition
HGNC:3036
*125645
Arrhythmogenic right
ventricular dysplasia 11
AD
610476
PubMed: Various
% of
horizontal
coverage of
gene
100%
DSG2
HGNC:3049
*125671
Arrhythmogenic right
ventricular dysplasia 10
Cardiomyopathy, dilated,
1BB
Arrhythmogenic right
ventricular dysplasia 8
AD
610193
PubMed: Various
100%
AD
610193
PubMed: Various
AD
607450
PubMed: Various
100%
DSP
HGNC:3052
*125647
JUP
HGNC:6207
*173325
Arrhythmogenic right
ventricular dysplasia 12
AD
611528
PubMed: 17924338
100%
PKP2
HGNC:9024
*602861
Arrhythmogenic right
ventricular dysplasia 9
AD
609040
[PubMed: 15489853
100%
TMEM43
HGNC:28472
*612048
Arrhythmogenic right
ventricular dysplasia 5
AD
604400
PubMed: Various
100%
Approval Date: Sept 2014
MLPA
Comments
Yes –
selected
exons
Yes –
selected
exons
Fully analysed in
a UKGTN panel
test
Fully analysed in
a UKGTN panel
test
Yes –
selected
exons
Yes –
selected
exons
Yes –
selected
exons
No
Fully analysed in
a UKGTN panel
test
Not available in
UKGTN
Fully analysed in
a UKGTN panel
test
Not available in
UKGTN
Copyright UKGTN © 2014