Cardiomyopathy Gene Set | NGS

Genes Sequenced A2ML1ABCC9, ACADVL, ACTA1, ACTC1, ACTN2, AGL, ALMS1, ALPK3, ANKRD1, BAG3, BRAF, CALR3, CASQ2, CBL, CHRM2, CPT2, CRYAB, CSRP3, CTF1, CTNNA3, DES, DMD, DNAJC19, DOLK, DSC2, DSG2, DSP, DTNA, ELAC2, EMD, EYA4, FHL1, FHL2, FKRP, FKTN, FLNC, GAA, GATA4, GATA6, GATAD1, GLA, HFE, HRAS, ILK, JPH2, JUP, KRAS, LAMA4, LAMP2, LDB3, LMNA, LRRC10, MAP2K1, MAP2K2, MIB1, MTO1, MURC (CAVIN4), MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOM1, MYOZ2, MYPN, NEBL, NEXN, NF1, NKX2-5, NPPA, NRAS, PDLIM3, PKP2, PLEKHM2, PLN, PRDM16, PRKAG2, PTPN11, RAF1, RASA1, RBM20, RIT1, RRAS, RYR1, RYR2, SCN5A, SDHA, SEPN1 (SELENON), SGCD, SGCG, SHOC2, SLC22A5, SLC25A4, SOS1, SOS2, SPRED1, TAZ, TBX20, TCAP, TMEM43, TMEM70, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TRIM63, TTN, TTR, TXNRD2, VCL, YWHAE and ZBTB17
Test Details Extraction of DNA, capture of the genes to be assayed, and sequencing on the Illumina platform. Identified variants are categorized as pathogenic, likely pathogenic, variant of unknown significance, likely benign, or benign. An interpretation of results is provided based on the medical literature and in the context of the indication for testing. aCGH send out testing for the ALMS1, DSP and PKP2 genes is performed when NGS does not identify any pathogenic or likely pathogenic variants. 
Methodology Next-generation sequencing
Performed Monday – Friday
Turnaround 3 – 4 weeks
Specimen Requirements Peripheral blood or Buccal swabs
Sample Collection 1 EDTA (lavender top) tube containing 2-5 mL peripheral blood or 2-4 Buccal swabs
Minimum Sample Volume 2 ml
Storage/Transport Conditions Ambient / room temperature preferred. However, if delivery / shipment of specimen is greater than four (4) hours, refrigerate at 4 degrees until delivery / shipment by overnight delivery. In seasonal warmer weather, include cold pack (DO NOT FREEZE).
Unacceptable Conditions Frozen specimens, clotted or hemolyzed specimens, inappropriate tube type
CPT Code(s) 81439 x 1 (NGS) and 81479 x 3(aCGH send out)