The John Welsh Cardiovascular Diagnostic Laboratory at Baylor College of Medicine is committed to providing the highest quality of service and cutting-edge medical and scientific technology to our patients and the cardiology/medical community. Working in close collaboration with cardiovascular experts and using Next Generation Sequencing technology, the John Welsh Cardiovascular Diagnostic Laboratory continues to develop comprehensive molecular testing for a growing list of disorders, including Marfan syndrome, Loeys-Dietz syndrome, familial thoracic aortic aneurysm/dissection, and related disorders, congenital heart disease, all types of cardiomyopathies (DCM, HCM, RCM, LVNC, and ARVD/C), full ranges of arrhythmias (LQTS, SQTS, FAF, CPVT, Brugada and AVB), pulmonary arterial hypertension, dyslipidemia and many others.
A total of 24 NGS gene panels are available to cover a full spectrum of cardiovascular genetic disorders. Our methodology achieves deep coverage (>200X) by capture/NGS of all coding regions and exon intron boundaries of individual genes in each panel. For the regions with pseudogenes or high GC content not covered by NGS, PCR/Sanger sequencing is used to fill in the gaps. These gene panel tests detect point mutations and insertions/deletions, with the option to parallelly detect exonic deletions/duplications for each gene by our targeted aCGH chip. All significant findings by NGS are confirmed by Sanger sequencing at no charge and are interpreted by board certified leading experts in the fields of cardiology and medical genetics. All panels are offered with competitive pricing and fast turnaround time. The detailed gene list, coverage and price for each panel are listed in the table below.
For any genetic panels, 4-8 ml blood sample in a lavender top tube is preferred.
|
Panel |
Diseases |
Genes |
CPT Codes |
|---|---|---|---|
|
A |
Marfan Syndrome, Loeys-Dietz Syndrome, Aortopathy and Related Disorders (20 genes) |
ACTA2, CBS, COL3A1, FLNA, FBN1, FBN2, MAT2A, MFAP5, MYH11, MYLK, NOTCH1, PRKG1, SLC2A10, SMAD3, SMAD4, TGFB2, TGFB3, TGFBR1, TGFBR2, TGFBR3 |
81404, 81405x8, 81406x4, 81407x4, 81408x3 |
|
B |
Congenital Heart Disease – Holt-Oram Syndrome, ASD, TOF, Heterotaxy, RVOT, TGA, DORV (117 genes) |
ACTC1, ACVR2B, ACVRL1, ADCK3, ARHGAP31, ARX, ATRX, B3GAT3, BCOR, BMPR2, BRAF, CACNA1C, CFC1, CHD7, COL18A1, COL2A1, CREBBP, CRELD1, DHCR24, DHCR7, DLL3, DNAH11, DNAH5, DNAI1, DSG2, DSP, DTNA, ELN, ESCO2, EVC, EVC2, EYA1, FANCA, FANCC, FANCD2, FANCE, FASTKD2, FBN1, FBN2, FGD1, FGFR2, FLNA, FLNB, FOXC2, FOXH1, GATA4, GATA6, GDF1, GJA1, GLI3, GPC3, HOXA1, HRAS, IGBP1, JAG1, KCNJ2, KRAS, LBR, LEFTY2, LRP5, MAP2K1, MAP2K2,MID1, MKKS, MKS1, MYCN, MYH6, MYOT, NF1, NIPBL, NKX2.5, NKX2.6, NODAL, NOTCH1, NOTCH2, NPHP3, NSDHL, NUBPL, PEX7, PRKAB2, PRKG1, PTPN11, PTRF, RAI1, RBM10, RET, RPL4, RPSA, SALL1, SALL4, SCN1B, SCN5A, SEMA5A, SKI, SNX3, SOS1, SOX2, SOX7, SPEG, TBX1, TBX20, TBX3, TBX5, TCAP, TCTN3, TGFB2, TGFBR2, THEMIS, TLL1, TWIST1, UQCRB, VCL, VHL, ZFPM2, ZIC3, ZMPSTE24, ZNF469 |
81403x4, 81404x23, 81405x29, 81406x37, 81407x17, 81408x7 |
|
C |
Dilated Cardiomyopathy – DCM (52 genes) |
ABCC9, ACTC1, ACTN2, ANKRD1, BAG3, CAV3, CRYAB, CSRP3, CTF1, DES, DMD, DSC2, DSG2, DSP, EMD, EYA4, FHL2, FKTN, GATAD1, ILK, LAMA4, LAMP2, LDB3, LMNA, MYBPC3, MYH6, MYH7, MYPN, NEBL, NEXN, PDLIM3, PKP2, PLN, PRDM16, PSEN1, PSEN2, RBM20, SCN5A, SDHA, SGCD, SPEG, SYNE2, TAZ, TBX20, TCAP, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TTN, VCL |
81403, 81404x8, 81405x12, 81406x20, 81407x7, 81408x4 |
|
D |
Left Ventricular Noncompaction – LVNC (13 genes) |
ACTC1, CASQ2, DTNA, LDB3, LMNA, MIB1, MYBPC3, MYH7, PRDM16, TAZ, TNNT2, TPM1, VCL |
81405x2, 81406x9, 81407x2 |
|
E |
Muscular Dystrophies with Cardiomyopathy (25 genes) |
ACTA1, BAG3, CAV3, CRYAB, CSRP3, DES, DMD, EMD, FKTN, LDB3, LMNA, MYBPC3, MYH7, RYR1, SGCD, SGCG, SYNE2, TCAP, TMEM43, TNNT2, TNXB, TPM2, TTN, VCL, VCP |
81404x5, 81405x6, 81406x7, 81407x2, 81408x5 |
|
F |
Hypertrophic Cardiomyopathy – HCM (41 genes) |
AARS2, ACTC1, ACTN2, ANKRD1, BAG3, CAV3, CSRP3, FXN, GAA, GLA, JPH2, KRAS, LAMP2, LDB3, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYO6, MYOM1, MYOZ2, NEXN, PLN, PRKAG2, PRKAR1A, PTPN11, RAF1, RYR2, SCO2, SDHA, SURF1, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, VCL |
81403x2, 81404x9, 81405x10, 81406x13, 81407x5, 81408x2 |
|
G |
Long QT Syndrome – LQTS (15 genes) |
AKAP9, ANK2, CACNA1C, CALM1, CALM2, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNJ5, KCNQ1, SCN4B, SCN5A, SNTA1 |
81403x2, 81404x4, 81405x3, 81406x2, 81407x4 |
|
H |
CPVT and Other VT (9 genes) |
ANK2, CALM1, CASQ2, GNAI2, KCNJ2, KCNQ1, RYR2, SCN5A, TRDN |
81404, |
|
I |
Sudden Cardiac/Infant Death Syndrome – SCDS/SIDS (52 genes) |
ABCC9, ACTN2, AKAP9, AKT3, ANK2, CACNA1C, CACNB2, CASQ2, CAV3, CSRP3, DES, DSC2, DSG2, DSP, EYA4, FBN1, FBN2, FKTN, GPD1L, JPH2, JUP, KCNA5, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNQ1, LMNA, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, NEXN, NRAS, PKP4, RYR2, SCN2B, SCN3B, SCN4B, SCN5A, SNTA1, TGFBR1, THEMIS, TMEM70, TNNC1, TNNI3, TNNT2, TPM1, TTR |
81403x4, 81404x10, 81405x11, 81406x16, 81407x8, 81408x3 |
|
J |
Atrioventricular Block (6 genes) |
DES, EMD, LMNA, NKX2.5, SCN1B, SCN5A |
81404x2, 81405x2, 81406, |
|
K |
Short QT Syndrome – SQTS (7 genes) |
CACNA1B, CACNA1C, CACNA2D1, CACNB2, KCNH2, KCNJ2, KCNQ1 |
81404, 81406x3, 81407x3 |
|
L |
Familial Atrial Fibrillation – FAF (14 genes) |
ABCC9, GJA5, KCNA5, KCND3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1, NPPA, SCN1B, SCN2B, SCN3B, SCN5A |
81403x4, 81404x6, 81406x2, 81407x2 |
|
M |
Pulmonary Arterial Hypertension – PAH (13 genes) |
ACVRL1, BMPR2, CAV1, EIF2AK4, ENG, GDF2, KCNA5, KCNK3, NOTCH1, NOTCH3, SMAD4, SMAD9, TOPBP1 |
81403, 81404x4, 81405, 81406x3, 81407x4 |
|
N |
Brugada Syndrome/J-Wave Syndromes (16 genes) |
ANK2, CACNA1C, CACNA2D1, CACNB2, CAV3, GPD1L, HCN4, KCND3, KCNE3, KCNH2, KCNJ8, SCN1B, SCN2B, SCN3B, SCN5A, TRPM4 |
81403, 81404x6, 81405x2, 81406x3, 81407x4 |
|
O |
Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy – ARVD/C (12 genes) |
DES, DSC2, DSG2, DSP, JUP, PKP2, PKP4, PLN, RYR2, TGFB3, TMEM43, TTN |
81403, 81405x2, 81406x7, 81408x2 |
|
P |
Hereditary Hemorrhagic Telangiectasia – HHT (4 genes) |
ACVRL1, ENG, GDF2, SMAD4 |
81404, |
|
Q |
Dyslipidemia (30 genes) |
ABCA1, ABCG5, ABCG8, ANGPTL3, ANGPTL4, APOA1, APOA2, APOA5, APOB, APOC2, APOE, EPHX2, GPIHBP1, HADH, LCAT, LDLR, LDLRAP1, LIPC, LIPI, LMF1, LPIN1, LPL, MTTP, NPC1, PCSK9, PNPLA3, PPARA, PPARG, PPP1R17, USF1 |
81404x7, 81405x9, 81406x12, 81407x2 |
|
R |
Idiopathic Pulmonary Fibrosis – IPF (11 genes) |
ABCA3, CSF2RA, ELMOD2, MUC5B, SFTPA1, SFTPA2, SFTPB, SFTPC, SFTPD, TERC, TERT |
81403, 81404x2, 81405x4, 81406x2, 81407, |
|
S |
Restrictive Cardiomyopathy – RCM (6 genes) |
ACTC1, BAG3, DES, MYH7, TNNI3, TNNT2 |
81404, 81405x3, 81406, |
|
T |
Heterotaxy (10 genes) |
ACVR2B, CFC1, CRELD1, FOXH1, GDF1, GJA1, LEFTY2, NKX2.5, NODAL, ZIC3 |
81403, 81404x6, 81405, |
|
U |
Valvar and Vascular Disorders (41 genes) |
ACVRL1, ABCC6, ACTA2, ATP6V0A2, BMPR2, CBS, CHST14, COL1A1, COL1A2, COL2A1, COL3A1, COL4A1, COL5A1, COL5A2, EFEMP2, EIF2AK4, ELN, ENG, FBLN5, FBN1, FBN2, FLNA, GBA, GLA, LTBP4, MAT2A, MFAP5, MYH11, MYLK, NOTCH1, NOTCH3, PLOD1, PRKG1, SLC2A10, SMAD3, SMAD4, TGFB2, TGFB3, TGFBR1, TGFBR2, TGFBR3, TOPBP1 |
81403, |
|
V |
Pan Arrhythmia (54 genes) |
ABCC9, AKAP9, ANK2, CACNA1C, CACNA1D, CACNA2D1, CACNB2, CALM1, CALM2, CASQ2, CAV3, DES, DPP6, DSC2, DSG2, DSP, GJA5, GNAI2, GPD1L, HCN4, JUP, KCNA5, KCND3, KCNE1, KCNE1L, KCNE2, KCNE3, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNQ1, LDB3, LMNA, MYH6, NPPA, PKP2, PKP4, PLN, PRKAG2, RPSA, RYR1, RYR2, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SNTA1, TGFB3, TMEM43, TRDN, TRPM4, TTN |
81403x7, 81404x10, 81405x8, 81406x16, 81407x9, 81408x4 |
|
W |
Pan Cardiomyopathy (92 genes) |
AARS2, ABCC9, ACTC1, ACTN2, ADRB1, ALMS1, ANKRD1, APOA1, BAG3, CALR3, CAV3, COL1A1, CRYAB, CSRP3, CTF1, DES, DMD, DPP6, DSC2, DSG2, DSP, DTNA, EMD, EYA4, FHL2, FKTN, FXN, GAA, GATA4, GATAD1, GLA, GSN, ILK, JPH2, JUP, KRAS, LAMA4, LAMP2, LDB3, LMNA, MIB1, MYBPC3, MYF6, MYH6, MYH7, MYL2, MYL3, MYLK2, MYO6, MYOM1, MYOZ2, MYPN, NEBL, NEXN, PDLIM3, PKP2, PKP4, PLN, PRDM16, PRKAG2, PRKAR1A, PSEN1, PSEN2, PTPN11, RAF1, RBM20, RPSA, RYR2, SCN5A, SCO2, SDHA, SGCD, SGCG, SPEG, SURF1, SYNE2, TAZ, TBX20, TCAP, TGFB3, TMEM43, TMPO, TNNC1, TNNI3, TNNT2, TNXB, TPM1, TPM2, TTN, TTR, VCL, VCP |
81403x3, 81404x15, 81405x22, 81406x35, 81407x10, 81408x7 |
|
X |
Pan Cardiovascular Panel |
All genes listed in Panel A-W. |
81479 |
Pricing
- NGS only at 97.9 percent coverage: $1,000 per panel
- NGS + Sanger fill-in at 100 percent coverage: Please call (832) 824-4155 to inquire.
