Genetic testing for Progressive Cardiac Conduction Disease (PCCD) (R328)

Background information

Impaired conduction can be caused by ion channel defects that alter action potential shape or by defective coupling between cardiomyocytes. This disorder is genetically heterogeneous and the clinical sensitivity of this panel is unknown.

The genes included may also indicate a syndromic disorder which includes conduction abnormalities as part of the clinical presentation.

Currently there are eleven genes on the panel: DES, EMD, GLA, HCN4, LAMP2, LMNA, NKX2-5, PRKAG2, SCN5A, TNNI3K and TTR.

Testing strategy

Clinically affected probands:

R328 - Singleton analysis of a small panel of genes.

Targeted analysis for known / previously reported familial variants:

• Family testing in clinically unaffected family members at risk of inheriting a previously reported familial pathogenic variant (R242)
• Diagnostic confirmation in individuals at risk of inheriting a previously reported familial pathogenic variant and clinically suspected of having the familial condition (R240)
• Segregation studies in affected family members to aid variant interpretation (R375)
• Prenatal diagnosis for families with a pathogenic or likely pathogenic variant identified (R240 and R321 Maternal cell contamination)

Target reporting times

• 84 calendar days for diagnostic screening of affected individuals
• 42 calendar days for diagnostic confirmation in individuals at risk of inheriting a previously reported familial pathogenic variant and clinically suspected of having the familial condition (R240)
• 14 calendar days for presymptomatic testing of clinically unaffected family members at risk of inheriting a previously reported familial pathogenic variant (R242)

Turnaround times for genetic / genomic testing

Sample requirements and referring samples

All non NHSE referrals should be accompanied by a completed referral form.

Requesting specialties:

• Cardiology
• Clinical Genetics
• Paediatrics
• Electrophysiology
• Pathology
• Coroners

Specimen requirements and referring samples

Price list for non NHSE referrals (pdf)