Oxford Molecular Genetics Laboratory

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Oxford Molecular Genetics Laboratory
Genetics Laboratories, Churchill Hospital, Old Road, Headington, Oxford, OX3 7LE
www.ouh.nhs.uk/geneticslab
ANDERSEN-TAWIL SYNDROME (ATS) KCNJ2 (OMIM: 600681)
Introduction
Andersen-Tawil syndrome (ATS) is a multisystem channelopathy characterised by a triad of periodic
paralysis, ventricular arrhythmias, and distinctive dysmorphic facial or skeletal features. ATS is inherited in
an autosomal dominant pattern with intra-familial variable expression and incomplete penetrance. It is
predisposed to by mutations in the KCNJ2 gene[a-d].
REFERRAL PROCEDURE
• Diagnostic referrals are accepted for probands with a suspected or confirmed diagnosis of Brugada
syndrome.
o Referrals are accepted from Cardiology, Clinical Genetics and other relevant medical
specialities.
o Clinical information and details of relevant family history should be provided with all referrals
either on the original request form or on a separate pre-referral form (Cardiac arrhythmia prereferral form).
• Family test referrals are only accepted from Clinical Genetics specialists.
o Referrals for affected family members (i.e. segregation analysis) must be accompanied by
appropriate clinical information.
o Referrals for unaffected family members will only be considered for variants with clear evidence
for pathogenicity.
• Clinical advice is available from Dr Edward Blair, Consultant Clinical Geneticist, at the Churchill Hospital
([email protected]).
• Further information about the test can be obtained from the laboratory (O[email protected])
Sample Requirements
 This analysis requires 0.5 µg of DNA, preferably at >100 ng / µl.
 DNA from blood or post-mortem tissues is suitable.
Testing Strategy
Molecular analysis is undertaken by fluorescent dideoxy sequencing of the coding exon and intron/exon
boundaries of KCNJ2.
Target Reporting Times
Referral Type
Molecular Analysis
Diagnostic
Familial
Sequence analysis of KCNJ2
Familial mutation(s)
Target Reporting Time
(working days)
40
10
• Please see the current price list on the Oxford Genetics laboratory Molecular genetics page
References: [a] Nguyen et al (2013) Int J Cardiol. 170(1):1-16 ; [b] Marquis-Nicholson et al (2014) Circ
Cardiovasc Genet. 7(1):17 22; [c] Mizusawa et al (2014) Circ. J. 78(12):2827-33 [d] Griffin et al (2015)
Heart Rhythm 12(2):419-422
N.B. Details are correct for the date of printing only. Last updated August, 2015
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