A B C D E F G H I J K L M N O P Q R S T U V W X Y Z # |
Comprehensive Cardiovascular NGS Panel
Test CodeComprehensive Cardiovascular NGS Panel-MISC
CPT Codes
81407, 81408, 81479
Includes
Genes: A2ML1, ABCC9, ACADVL, ACTA2, ACTB, ACTC1, ACTG1, ACTN2, ACVR2B, ACVRL1, ADA2, AGL, AKAP9, ALMS1, ANK2, ANKRD1, APOA5, APOB, B4GALT7, BAG3, BBS10, BCOR, BMPR2, BRAF, C1R, C1S, CACNA1C, CACNA2D1, CACNB2, CALM1, CALM2, CALM3, CALR3, CASQ2, CAV1, CAV3, CAVIN4, CBL, CBS, CCDC103, CCDC39, CCDC40, CHD7, CHRM2, COL3A1, COL5A1, COL5A2, COX15, CPT1A, CPT2, CRELD1, CRYAB, CSRP3, CTF1, CTNNA3, DEPDC5, DES, DMD, DNAAF1, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAH11, DNAH5, DNAI1, DNAI2, DNAJC11, DNAJC19, DNAL1, DOLK, DSC2, DSG2, DSP, DTNA, EFEMP2, ELAC2, ELN, EMD, ENG, EYA4, FBN1, FBN2, FGD1, FHL1, FHL2, FKRP, FKTN, FLNA, FLNC, FOXH1, FXN, GAA, GATA4, GATA6, GATAD1, GDF1, GJA1, GJA5, GLA, GPC3, GPD1L, GYG1, HAMP, HAND1, HCN4, HFE, HJV, HRAS, ILK, INVS, JAG1, JPH2, JUP, KAT6B, KCNA5, KCND3, KCNE1, KCNE2, KCNE3, KCNE5, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNK3, KCNQ1, KCNQ2, KCNQ3, KCNT1, KRAS, LAMA4, LAMP2, LDB3, LDLR, LDLRAP1, LEFTY2, LMNA, LZTR1, MAP2K1, MAP2K2, MED12, MED13L, MFAP5, MIB1, MKS1, MMP21, MRPL3, MTO1, MYBPC3, MYH11, MYH6, MYH7, MYL2, MYL3, MYLK, MYLK2, MYOM1, MYOZ2, MYPN, NDUFAF1, NDUFB11, NEBL, NEK8, NEXN, NF1, NKX2-5, NKX2-6, NME8, NODAL, NOTCH1, NOTCH2, NPHP3, NPPA, NR2F2, NRAS, NSD1, OFD1, PCDH19, PCSK9, PDLIM3, PKD1L1, PKP2, PLN, PLOD1, PRDM16, PRKAG2, PRKG1, PRRT2, PSEN2, PTPN11, RAF1, RANGRF, RASA1, RBM20, RIT1, RRAS, RYR2, SCN10A, SCN1A, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SCN8A, SCN9A, SDHA, SGCD, SHOC2, SKI, SLC22A5, SLC25A20, SLC2A1, SLC2A10, SLC40A1, SLMAP, SMAD3, SMAD4, SMAD6, SMAD9, SNTA1, SOS1, SOS2, SYNE1, TAZ, TBX1, TBX20, TBX5, TCAP, TFR2, TGFB2, TGFB3, TGFBR1, TGFBR2, TMEM43, TMEM70, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TRPM4, TTC8, TTN, TTR, TXNRD2, VCL, YWHAE, ZFPM2, ZIC3 ( 252 genes ) Coverage: 96% at 20x
Preferred Specimen
Whole Blood, EDTA
Minimum Volume
Two 4ml EDTA tubes, prefer pink top x2 but can use lavender top.
Methodology
Next Generation Sequencing (NGS)
Report Available
3-5 weeks
Limitations
All sequencing technologies have limitations. This analysis is performed by Next Generation Sequencing (NGS) and is designed to examine coding regions and splicing junctions. Although next generation sequencing technologies and our bioinformatics analysis significantly reduce the contribution of pseudogene sequences or other highly-homologous sequences, these may still occasionally interfere with the technical ability of the assay to identify pathogenic variant alleles in both sequencing and deletion/duplication analyses. Sanger sequencing is used to confirm variants with low quality scores and to meet coverage standards. If ordered, deletion/duplication analysis can identify alterations of genomic regions which include one whole gene (buccal swab specimens and whole blood specimens) and are two or more contiguous exons in size (whole blood specimens only); single exon deletions or duplications may occasionally be identified, but are not routinely detected by this test. Identified putative deletions or duplications are confirmed by an orthogonal method (qPCR or MLPA). This assay will not detect certain types of genomic alterations which may cause disease such as, but not limited to, translocations or inversions, repeat expansions (eg. trinucleotides or hexanucleotides), alterations in most regulatory regions (promoter regions) or deep intronic regions (greater than 20bp from an exon). This assay is not designed or validated for the detection of somatic mosaicism or somatic mutations.
Clinical Significance
Gene Specifics:
Gene | Notes |
---|---|
FXN | Only sequence variants and copy number changes in this gene are tested. Repeat expansion testing may be warranted if the clinical presentation of this patient is specific for a condition associated with this gene. The current testing method does not assess trinucleotide repeat expansions in this gene. |
ZIC3 | The current testing method does not assess trinucleotide repeat expansions in this gene. |
Performing Laboratory
Fulgent Genetics
4978 Santa Anita Avenue, Suite 205
Temple City, California 91780
Send to Quest, they will forward to Fulgent.
Last Updated: December 27, 2023