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Genetic testing for Paediatric cardiomyopathy (PaedCM) (R135)

Paediatric cardiomyopathy (PaedCM) is genetically heterogeneous.

Background information

The testing repertoire also includes a number of syndromic disorders which may include cardiomyopathy as part of the clinical presentation. The clinical sensitivity is unknown. This panel is most appropriate for infants or children with a clinical presentation featuring cardiomyopathy. Additional referral information on the clinical presentation may aid data interpretation.

Only variants considered potentially relevant to the referral will be included in the final report. If the analysis is very urgent then the rapid exome service using samples from the individual and both parents at a different service provider may be more appropriate.

Currently there are 141 genes and two variants on the panel.

The included genes are: AARS2, ABCC9, ACAD9, ACADVL, ACTA1, ACTC1, ACTN2, AGK, AGL, ALMS1, ALPK3, ARSB, ATP5F1D, ATPAF2, BAG3, BRAF, CBL, CDH2, COA5, COA6, COX10, COX14, COX15, COX20, COX6B1, CPT2, CSRP3, DES, DMD, DNAJC19, DOLK, DSC2, DSG2, DSP, EMD, EPG5, FAH, FHL1, FHOD3, FKTN, FLNC, GAA, GLA, GLB1, GUSB, HADHA, HADHB, HCN4, HRAS, IDH2, IDS, IDUA, JPH2, JUP, KRAS, LAMP2, LMNA, LRPPRC, LZTR1, MAP2K1, MAP2K2, MIB1, MLYCD, MMACHC, MRPL44, MMUT, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYPN, NDUFA10, NDUFA11, NDUFA2, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFB11, NDUFB3, NDUFB8, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NEXN, NF1, NKX2-5, NONO, NRAS, NUBPL, PCCA, PCCB, PDLIM3, PKP2, PLN, PNPLA2, PPA2, PPCS, PPP1CB, PPP1R13L, PRKAG2, PTPN11, RAF1, RBM20, RIT1, RYR2(Ex3del) ++,SCN5A, SCO1, SCO2, SDHA, SDHAF1, SDHD, SGCD, SHOC2, SLC22A5, SLC25A20, SLC25A4, SOS1, SOS2, SURF1, TAZ, TMEM126B, TMEM43, TMEM70, TNNC1, TNNI3, TNNI3K, TNNT2, TPM1, TSFM, TTN, TTR, and VCL.

Due to a lack of data to aid interpretation missense variants in TTN are not reported and only potentially truncating TTN variants are reported. The missense data is retained in the laboratory and may be analysed in the future. The panel also includes two specific variants; p.Arg518 in CACNA1C and the mitochondrial variant MT-TI m.4300A>G.

Testing strategy

Clinically affected probands:

R135 - Singleton analysis of a large 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