What’s New in Cardiology

 

Familial Hypercholesterolemia (FH) Panel

  • Sequencing and deletion/duplication analysis of 4 genes
    • Genes: APOB, LDLR, LDLRAP1, PCSK9
  • Turnaround time of 4 weeks


Heritable Disorders of Connective Tissue Panel

  • Sequencing and deletion/duplication analysis of 49 genes 
    • Genes: ACTA2, ADAMTS2, ALDH18A1, ATP6V0A2, ATP7A, B3GALT61, B4GALT7, CBS, CHST14, COL11A1,COL11A2, COL1A1, COL1A2, COL2A1, COL3A1, COL5A1, COL5A2, COL9A1, COL9A2, DSE, EFEMP2, ELN, FBLN5, FBN1, FBN2, FKBP14, FLNA, LTBP4, MAT2A, MED12, MFAP5, MYH11, MYLK, NOTCH1, PLOD1, PRDM5, PRKG1, PYCR1, RIN2, SKI, SLC2A10, SLC39A13, SMAD3, SMAD4, TGFB2, TGFB3, TGFBR1, TGFBR2, ZNF469
  • Turnaround time of 4 weeks

Updates to Cardiology Test Menu 

  • Exon-level deletion/duplication now available for ALL indications
  • New clinically relevant genes added to ALL panels
  • TAT of 4 weeks for ALL panels
Arrhythmia Panels Cardiomyopathy Panels Other
 Panels Arrhythmia LQTS BrS CPVT SQTS Cardiomyopathy HCM DCM/LVNC ARVC  Marfan/TAAD PAH HHT
Previous # of Genes  30 12 7 3 3 76 18 38 7  16  5 4
Newly added genes ABCC9, CACNA2D1, CALM1, CALM2, CALM3, DES, KCND3, KCNE1L,  LMNA, PLN, SCN10A, SCN2B, TGFB3, TRDN, TRPM4, TTN   

CALM1, CALM2, CALM3, KCNJ5, TRDN

ABCC9, KCND3, KCNJ8, PKP2, SCN10A, SCN2B, TRPM4  CALM1, CALM2, CALM3, TRDN CACNA1C,  CACNB2  ALMS1, ALPK3,  CHRM2, DOLK,    FHL1, FKRP,        HCN4, MIB1,      MURC, MYH6,    NKX2-5, PRDM16, RIT1, TGFB3, TXNRD2  ACTN2, CSRP3, FHL1, JPH2,  PLN, TCAP, VCL ABCC9, ALMS1, BAG3, CHRM2, CRYAB, DMD, DOLK, DSC2, DSG2, DSP, DTNA, FKTN, GATAD1, ILK, LAMA4, MIB1, MYH6, MYPN, NEBL, PRDM16, RAF1, TMPO, TXNRD2  DES, LMNA,  PLN, SCN5A, TGB3,    TTN MAT2A, MFAP5, MYLK, NOTCH1, PRKG1, SMAD4,  TGFB3  EIF2AK4, GDF2 GDF2
New # of Genes 46 17 14 7 5 91 25 61 13  23  7 5