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Research

Genetic Testing by Disease

Master
Content

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.

Content
Cardiovascular Gene Panels by Disease

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,
81405, 81406x3, 81407x3,
81408

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,
81407

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,
81405,
81406x2

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,
81408

S

Restrictive Cardiomyopathy – RCM (6 genes)

ACTC1, BAG3, DES, MYH7, TNNI3, TNNT2

81404, 81405x3, 81406,
81407

T

Heterotaxy (10 genes)

ACVR2B, CFC1, CRELD1, FOXH1, GDF1, GJA1, LEFTY2, NKX2.5, NODAL, ZIC3

81403, 81404x6, 81405,
81406x2

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,
81404, 81405x10, 81406x12, 81407x10, 81408x9

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

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Pricing

Content
  1. NGS only at 97.9 percent coverage: $1,000 per panel
  2. NGS + Sanger fill-in at 100 percent coverage: Please call (832) 824-4155 to inquire.