Cardiology Genetic Testing Services

Cardiomyopathies

Arrhythmogenic Right Ventricular Cardiomyopathy Panel

Forms and Documents

Test Details

CTNNA3, DES, DSC2, DSG2, DSP, FLNC, JUP, LDB3, LMNA, PKP2, PLN, RYR2, SCN5A, TGFB3, TMEM43, TTN
  • Confirmation of a clinical diagnosis in symptomatic patients
  • Risk assessment of asymptomatic family members of a proband with ARVC
  • Differentiation of hereditary ARVC from other acquired or genetic heart conditions
  • Recurrence risk calculation with a known mutation
  • Deletion/Duplication Analysis
  • Next-Gen Sequencing

Ordering

483
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81406x5
Yes
Yes
* For price inquiries please email zebras@genedx.com
Cardiomyopathy Panel

Forms and Documents

Test Details

ABCC9, ACTC1, ACTN2, AKAP9, ALMS1, ALPK3, ANKRD1, BAG3, BRAF, CAV3, CHRM2, CRYAB, CSRP3, CTNNA3, DES, DMD, DOLK, DSC2, DSG2, DSP, DTNA, EMD, EYA4, FHL1, FKRP, FKTN, FLNC, GAA, GATA4, GATAD1, GLA, HCN4, HFE, HRAS, ILK, JPH2, JUP, KRAS, LAMA4, LAMP2, LDB3, LMNA, LRRC10, MAP2K1, MAP2K2, MIB1, MTND1, MTND5, MTND6, MTTD, MTTG, MTTH, MTTI, MTTK, MTTL1, MTTL2, MTTM, MTTQ, MTTS1, MTTS2, MURC, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOZ2, MYPN, NEBL, NEXN, NKX2-5, NRAS, PDLIM3, PKP2, PLN, PRDM16, PRKAG2, PTPN11, RAF1, RBM20, RIT1, RYR2, SCN5A, SGCD, SHOC2, SOS1, TAZ, TBX20, TCAP, TGFB3, TMEM43, TMPO, TNNC1, TNNI3, TNNT2, TOR1AIP1, TPM1, TTN, TTR, TXNRD2, VCL
  • Molecular confirmation of a clinical diagnosis in symptomatic patients
  • Risk assessment of asymptomatic family members of a proband with cardiomyopathy
  • Differentiation of hereditary cardiomyopathy from acquired (non-genetic) cardiomyopathy
  • Recurrence risk calculation
  • Deletion/Duplication Analysis
  • Next-Gen Sequencing

Ordering

694
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81439x1
Yes
Yes
* For price inquiries please email zebras@genedx.com
Combined Cardiac Panel

Forms and Documents

Test Details

ABCC9, ACTC1, ACTN2, AKAP9, ALMS1, ALPK3, ANK2, ANKRD1, BAG3, BRAF, CACNA1C, CACNA2D1, CACNB2, CALM1, CALM2, CALM3, CASQ2, CAV3, CHRM2, CRYAB, CSRP3, CTNNA3, DES, DMD, DOLK, DSC2, DSG2, DSP, DTNA, EMD, EYA4, FHL1, FKRP, FKTN, FLNC, GAA, GATA4, GATA5, GATA6, GATAD1, GJA5, GLA, GNB5, GPD1L, HCN4, HFE, HRAS, ILK, JPH2, JUP, KCNA5 , KCND3, KCNE1, KCNE1L, KCNE2, KCNE3, KCNH2(HERG), KCNJ2, KCNJ5, KCNJ8, KCNQ1, KRAS, LAMA4, LAMP2, LDB3, LMNA, LRRC10, MAP2K1, MAP2K2, MIB1, MTND1, MTND5, MTND6, MTTD, MTTG, MTTH, MTTI, MTTK, MTTL1, MTTL2, MTTM, MTTQ, MTTS1, MTTS2, MURC, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYL4, MYLK2, MYOZ2, MYPN, NEBL, NEXN, NKX2-5, NRAS, PDLIM3, PKP2, PLN, PPA2, PRDM16, PRKAG2, PTPN11, RAF1, RANGRF, RBM20, RIT1, RYR2, SCN10A, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SGCD, SHOC2, SNTA1, SOS1, TAZ, TBX20, TCAP, TECRL, TGFB3, TMEM43, TMPO, TNNC1, TNNI3, TNNT2, TOR1AIP1, TPM1, TRDN, TRPM4, TTN, TTR, TXNRD2, VCL
  • Molecular confirmation of a clinical diagnosis in symptomatic patients
  • Risk assessment of asymptomatic family members of a proband with cardiomyopathy and/or arrhythmia
  • Differentiation of hereditary cardiomyopathy and/or arrhythmia from acquired (non-genetic) cardiomyopathy and/or arrhythmia
  • Recurrence risk calculation
  • Deletion/Duplication Analysis
  • Next-Gen Sequencing

Ordering

935
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81413x1, 81414x1
Yes
Yes
* For price inquiries please email zebras@genedx.com
Dilated Cardiomyopathy Panel

Forms and Documents

Test Details

ABCC9, ACTC1, ACTN2, ALMS1, ANKRD1, BAG3, CHRM2, CRYAB, CSRP3, DES, DMD, DOLK, DSC2, DSG2, DSP, DTNA, EMD, FKTN, FLNC, GATAD1, HCN4, ILK, LAMA4, LAMP2, LDB3, LMNA, LRRC10, MIB1, MTND1, MTND5, MTND6, MTTD, MTTG, MTTH, MTTI, MTTK, MTTL1, MTTL2, MTTM, MTTQ, MTTS1, MTTS2, MYBPC3, MYH6, MYH7, MYPN, NEBL, NEXN, NKX2-5, PLN, PRDM16, RAF1, RBM20, RYR2, SCN5A, SGCD, TAZ, TBX20, TCAP, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, TXNRD2, VCL
  • Confirmation of a clinical diagnosis in symptomatic patients
  • Risk assessment of asymptomatic family members of a proband with DCM/LVNC
  • Differentiation of hereditary DCM from acquired (non-genetic) causes of DCM/LVNC
  • Recurrence risk calculation
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

J554
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81405x1, 81406x1, 81407x2
Yes
Yes
* For price inquiries please email zebras@genedx.com
Hypertrophic Cardiomyopathy (HCM) Panel

Forms and Documents

Test Details

ACTC1, ACTN2, ALPK3, CAV3, CSRP3, FHL1, FLNC, GAA, GLA, JPH2, LAMP2, MTND1, MTND5, MTND6, MTTD, MTTG, MTTH, MTTI, MTTK, MTTL1, MTTL2, MTTM, MTTQ, MTTS1, MTTS2, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYOZ2, PLN, PRKAG2, RAF1, RIT1, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TTR, VCL
  • Confirmation of clinical diagnosis in symptomatic patients
  • Genetic counseling and risk assessment of asymptomatic family members of a proband with HCM
  • Differentiation of hereditary HCM associated with mutations in sarcomeric genes from phenocopies (i.e. Danon disease, Fabry disease, Noonan syndrome, Pompe disease, Amyloidosis)
  • Deletion/Duplication Analysis
  • Next-Gen Sequencing

Ordering

J553
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81405x1, 81406x1, 81407x2
Yes
Yes
* For price inquiries please email zebras@genedx.com

New Billing Policy - Please contact your local genetic testing specialist for information on our updated reflex testing options

GeneDx aims to offer clinically relevant and comprehensive test panels, which are carefully researched, based on peer-reviewed research publications, and are reviewed by thought leaders in the cardiology and genetics communities. Each test result is written and reviewed by our specialized team of board-certified genetic counselors, cardiologists, and geneticists. All of our cardiology testing options include full sequencing and deletion/duplication analysis of all included genes, except where noted on the test requisition form.

Please download our Family History Questionnaire to assist in determining if the patient’s personal or family history is suggestive of a hereditary cardiac disorder and if they are a candidate for genetics follow-up.

Arrhythmias

Arrhythmia Panel

Forms and Documents

Test Details

ABCC9, AKAP9, ANK2, CACNA1C, CACNA2D1, CACNB2, CALM1, CALM2, CALM3, CASQ2, CAV3, CTNNA3, DES, DSC2, DSG2, DSP, FLNC, GATA4, GATA5, GATA6, GJA5, GNB5, GPD1L, HCN4, JUP, KCNA5 , KCND3, KCNE1, KCNE1L, KCNE2, KCNE3, KCNH2(HERG), KCNJ2, KCNJ5, KCNJ8, KCNQ1, LDB3, LMNA, MYL4, NKX2-5, PKP2, PLN, PPA2, RANGRF, RYR2, SCN10A, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SNTA1, TECRL, TGFB3, TMEM43, TRDN, TRPM4, TTN
  • Molecular confirmation of a clinical diagnosis in symptomatic individuals
  • Risk assessment of asymptomatic family members of a proband with arrhythmia
  • Differentiation of hereditary arrhythmia from acquired (non-genetic) arrhythmia
  • Recurrence risk calculation
  • Deletion/Duplication Analysis
  • Next-Gen Sequencing

Ordering

695
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81413x1, 81414x1
Yes
Yes
* For price inquiries please email zebras@genedx.com
Arrhythmogenic Right Ventricular Cardiomyopathy Panel

Forms and Documents

Test Details

CTNNA3, DES, DSC2, DSG2, DSP, FLNC, JUP, LDB3, LMNA, PKP2, PLN, RYR2, SCN5A, TGFB3, TMEM43, TTN
  • Confirmation of a clinical diagnosis in symptomatic patients
  • Risk assessment of asymptomatic family members of a proband with ARVC
  • Differentiation of hereditary ARVC from other acquired or genetic heart conditions
  • Recurrence risk calculation with a known mutation
  • Deletion/Duplication Analysis
  • Next-Gen Sequencing

Ordering

483
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81406x5
Yes
Yes
* For price inquiries please email zebras@genedx.com
Brugada Panel

Forms and Documents

Test Details

ABCC9, CACNA1C, CACNA2D1, CACNB2, GPD1L, HCN4, KCND3, KCNE3, KCNH2(HERG), KCNJ8, PKP2, SCN10A, SCN1B, SCN2B, SCN3B, SCN5A, TRPM4
  • Confirmation of a clinical diagnosis in symptomatic patients
  • Risk assessment of asymptomatic family members of a proband with Brugada syndrome
  • Recurrence risk calculation
  • Differentiation of hereditary BrS from other acquired or genetic heart conditions
  • Prenatal diagnosis in families with a known mutation
  • Deletion/Duplication Analysis
  • Next-Gen Sequencing

Ordering

481
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81404x1, 81406x1, 81407x1
Yes
Yes
* For price inquiries please email zebras@genedx.com
Catecholaminergic Polymorphic Ventricular Tachycardia Panel

Forms and Documents

Test Details

ANK2, CALM1, CALM2, CALM3, CASQ2, KCNJ2, RYR2, TECRL, TRDN
  • Confirmation of a clinical diagnosis in symptomatic patients
  • Risk assessment of asymptomatic family members of a proband with CPVT
  • Recurrence risk calculation
  • Differentiation of hereditary CPVT from other acquired or genetic heart conditions
  • Prenatal diagnosis in families with a known mutation
  • Deletion/Duplication Analysis
  • Next-Gen Sequencing

Ordering

482
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81403x1, 81405x1, 81408x1
Yes
Yes
* For price inquiries please email zebras@genedx.com
Combined Cardiac Panel

Forms and Documents

Test Details

ABCC9, ACTC1, ACTN2, AKAP9, ALMS1, ALPK3, ANK2, ANKRD1, BAG3, BRAF, CACNA1C, CACNA2D1, CACNB2, CALM1, CALM2, CALM3, CASQ2, CAV3, CHRM2, CRYAB, CSRP3, CTNNA3, DES, DMD, DOLK, DSC2, DSG2, DSP, DTNA, EMD, EYA4, FHL1, FKRP, FKTN, FLNC, GAA, GATA4, GATA5, GATA6, GATAD1, GJA5, GLA, GNB5, GPD1L, HCN4, HFE, HRAS, ILK, JPH2, JUP, KCNA5 , KCND3, KCNE1, KCNE1L, KCNE2, KCNE3, KCNH2(HERG), KCNJ2, KCNJ5, KCNJ8, KCNQ1, KRAS, LAMA4, LAMP2, LDB3, LMNA, LRRC10, MAP2K1, MAP2K2, MIB1, MTND1, MTND5, MTND6, MTTD, MTTG, MTTH, MTTI, MTTK, MTTL1, MTTL2, MTTM, MTTQ, MTTS1, MTTS2, MURC, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYL4, MYLK2, MYOZ2, MYPN, NEBL, NEXN, NKX2-5, NRAS, PDLIM3, PKP2, PLN, PPA2, PRDM16, PRKAG2, PTPN11, RAF1, RANGRF, RBM20, RIT1, RYR2, SCN10A, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SGCD, SHOC2, SNTA1, SOS1, TAZ, TBX20, TCAP, TECRL, TGFB3, TMEM43, TMPO, TNNC1, TNNI3, TNNT2, TOR1AIP1, TPM1, TRDN, TRPM4, TTN, TTR, TXNRD2, VCL
  • Molecular confirmation of a clinical diagnosis in symptomatic patients
  • Risk assessment of asymptomatic family members of a proband with cardiomyopathy and/or arrhythmia
  • Differentiation of hereditary cardiomyopathy and/or arrhythmia from acquired (non-genetic) cardiomyopathy and/or arrhythmia
  • Recurrence risk calculation
  • Deletion/Duplication Analysis
  • Next-Gen Sequencing

Ordering

935
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81413x1, 81414x1
Yes
Yes
* For price inquiries please email zebras@genedx.com
LQTS Panel

Forms and Documents

Test Details

AKAP9, ANK2, CACNA1C, CALM1, CALM2, CALM3, CAV3, KCNE1, KCNE2, KCNH2(HERG), KCNJ2, KCNJ5, KCNQ1, SCN4B, SCN5A, SNTA1, TRDN
  • Confirmation of a clinical diagnosis in symptomatic patients
  • Risk assessment for asymptomatic family members of a proband with LQTS
  • Differentiation of hereditary LQTS from acquired (non-genetic) causes of LQTS.
  • Prenatal diagnosis in families with a known pathogenic variant
  • Deletion/Duplication Analysis
  • Next-Gen Sequencing

Ordering

727
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81403 x1, 81404x1, 81406x2, 81414x1
Yes
Yes
* For price inquiries please email zebras@genedx.com
SCN5A-Brugada Panel

Forms and Documents

Test Details

SCN5A
  • Confirmation of a clinical diagnosis in symptomatic patients
  • Risk assessment of asymptomatic family members of a proband with Brugada syndrome
  • Recurrence risk calculation
  • Differentiation of hereditary Brugada syndrome from other acquired or genetic heart conditions
  • Prenatal diagnosis in families with a known mutation
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

TA12
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81407x1; 81479x1
Yes
Yes
* For price inquiries please email zebras@genedx.com
SQTS Panel

Forms and Documents

Test Details

CACNA1C, CACNB2, KCNH2(HERG), KCNJ2, KCNQ1
  • Confirmation of a clinical diagnosis in symptomatic patients
  • Risk assessment for asymptomatic family members of a proband with SQTS
  • Recurrence risk calculation
  • Prenatal diagnosis in families with a known mutation
  • Deletion/Duplication Analysis
  • Next-Gen Sequencing

Ordering

J551
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81403x1, 81406x2
Yes
Yes
* For price inquiries please email zebras@genedx.com
Sudden Cardiac Arrest Arrhythmia Panel

Forms and Documents

Test Details

ANK2, CALM1, CALM2, CALM3, CASQ2, CAV3, KCNE1, KCNE2, KCNH2(HERG), KCNJ2, KCNQ1, PPA2, RYR2, SCN5A
  • Genetic diagnosis in sudden unexplained death
  • Recurrence risk information for family members
  • Deletion/Duplication Analysis
  • Next-Gen Sequencing

Ordering

J552
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81413x1, 81414x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

New Billing Policy - Please contact your local genetic testing specialist for information on our updated reflex testing options

GeneDx aims to offer clinically relevant and comprehensive test panels, which are carefully researched, based on peer-reviewed research publications, and are reviewed by thought leaders in the cardiology and genetics communities. Each test result is written and reviewed by our specialized team of board-certified genetic counselors, cardiologists, and geneticists. All of our cardiology testing options include full sequencing and deletion/duplication analysis of all included genes, except where noted on the test requisition form.

Please download our Family History Questionnaire to assist in determining if the patient’s personal or family history is suggestive of a hereditary cardiac disorder and if they are a candidate for genetics follow-up.

Other Cardiac Disorders

Chromosomal Microarray (GenomeDx®)

Forms and Documents

Test Details

  • Confirmation of clinical diagnosis
  • Differentiation between de novo and familial cases
  • Prenatal diagnosis in at-risk pregnancies
  • Whole-genome Array CGH

Ordering

910
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81229x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Marshall CR et al., Am J Hum Genet. 2008; 82:477-88
  2. Jacquemont ML et al., J Med Genet 2006; 43:843-849
  3. Charman et al. Eur J Hum Genet 2005 13(10):1121-30
  4. Carney et al., (2003) Pediatr Neurol 28:205-211
  5. Scala et al., Am J Med Genet A. 2007; 43:2275-2784
  6. Archer et al., J Med Genet 2006 May;43(5):451-6
  7. Van Esch H. et al. Am J Hum Genet 77,:442-453, 2005
  8. delGaudio et al., Genet Med 2006; 8(12):784-792
  9. Cohen D et al., J Aut Dev Dis 2005; 35:103-1116
  10. Archer HL et al. J. Med. Genet. 43: 729-734, 2006
  11. Tao J et al., Am. J. Hum. Genet. 75: 1149-1154, 2004
  12. Weaving LS et al., Am J Hum Genet (2004) 75:1079-1093
  13. American College of Medical Genetics: Paper Outlines Approach To Genetic Diagnosis. In: Medical New Today Feb7, 2008
  14. Mental health in the United States: Parental report of diagnosed autism in children aged 4-17 years-United States, 2003-2004. MMWR Morb Mortal Wkly Rep 2006; 55(17):481-486. 2006
  15. Fombonne E. J Clin Psychiatry 2005; 66 Suppl. 10:3-8
  16. Fombonne et al., J Autism Dev Disord. 1999;29(2):113-9
  17. Shaefer GB & Mendelssohn NJ. Genet Med 2008; 10:4-12
  18. Shaefer GB & Lutz RE. Genet Med 2006; 8:549-556
  19. Abrahams BS & Geschwind DH. Nat Genet Rev 2008; 9:341-355
  20. Herman et al. Genet Med 2007:9:258-274
  21. Butler et al., J Med Genet 2005:42:318-321
  22. Abdul-Rahman et al., Genet Med 2006:8:50-54
ELN Gene Sequencing

Forms and Documents

Test Details

ELN
  • Confirmation of a clinical diagnosis
  • Presymptomatic testing to identify individuals at risk for SVAS
  • Targeted testing of family members for a known familial mutation
  • Prenatal diagnosis in at-risk pregnancies
  • Capillary Sequencing

Ordering

401
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81479x1
Yes
Yes
  • 315.3 Developmental speech or language disorder
  • 759.8 Other specified anomalies
  • 315.9 Unspecified delay in development, Developmental disorder NOS, Learning disorder NOS
* For price inquiries please email zebras@genedx.com
Hereditary Hemorrhagic Telangiectasia Panel

Forms and Documents

Test Details

ACVRL1, ENG, GDF2, RASA1, SMAD4
  • Confirmation of a clinical diagnosis in symptomatic individuals
  • Identification of individuals at-risk for developing the disease
  • Recurrence risk assessment
  • Deletion/Duplication Analysis
  • Next-Gen Sequencing

Ordering

697
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81405x2, 81406x2
Yes
Yes
* For price inquiries please email zebras@genedx.com
JAG1 Gene Sequencing & Del/Dup

Forms and Documents

Test Details

JAG1
  • Confirmation of a clinical diagnosis
  • Development of appropriate evaluation and management plan
  • Evaluation of family members as possible donors for liver transplantation
  • Identification of mutation carriers with milder manifestations
  • Prenatal diagnosis
  • Capillary Sequencing
  • Deletion/Duplication Analysis

Ordering

1004
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81406x1, 81407x1
Yes
Yes
  • 576.8 Other specified disorders of biliary tract Adhesions of bile duct [any], Atrophy of bile duct [any], Cyst of bile duct [any], Hypertrophy of bile duct [any], Stasis of bile duct [any], Ulcer of bile duct [any]
  • 745.2 Tetralogy of Fallot Fallot's pentalogy Ventricular septal defect with pulmonary stenosis or atresia, dextraposition of aorta, and hypertrophy of right ventricle
  • 571.9 Unspecified chronic liver disease without mention of alcohol
* For price inquiries please email zebras@genedx.com
Noonan and Comprehensive RASopathies Panel

Forms and Documents

Test Details

A2ML1, ACTB, ACTG1, BRAF, CBL, HRAS, KAT6B, KRAS, LZTR1, MAP2K1, MAP2K2, NF1, NRAS, NSUN2, PPP1CB, PTPN11, RAF1, RASA1, RASA2, RIT1, RRAS, SHOC2, SOS1, SOS2, SPRED1
  • Diagnosis in a patient based on clinical diagnosis
  • Diagnosis for known familial pathogenic variant(s)
  • Distinguish between causes and forms of RASopathies and disorders with phenotypically similar clinical presentations
  • Genetic counseling, especially regarding recurrence risk
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

TA06
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs | Extracted DNA

Billing

81442x1
Yes
Yes
* For price inquiries please email zebras@genedx.com
Pulmonary Arterial Hypertension Panel

Forms and Documents

Test Details

ACVRL1, BMPR2, CAV1, EIF2AK4, ENG, GDF2, KCNK3, SMAD9
  • Confirmation of a clinical diagnosis in symptomatic individuals
  • Identification of individuals at­?risk for developing the disease
  • Recurrence risk assessment
  • Deletion/Duplication Analysis
  • Next-Gen Sequencing

Ordering

696
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81405x2, 81406x2
Yes
Yes
* For price inquiries please email zebras@genedx.com
TBX5 Gene Sequencing

Forms and Documents

Test Details

TBX5
  • Confirmation of a clinical diagnosis
  • Identification of the genetic basis of observed cardiac/limb defects in affected individuals
  • Prenatal diagnosis - in families with an affected child and known mutation
  • Capillary Sequencing

Ordering

2361
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81405x1
No
Yes
* For price inquiries please email zebras@genedx.com
TTR Gene Sequencing

Forms and Documents

Test Details

TTR
  • Confirmation of a clinical diagnosis
  • Differentiation between cardiac amyloidosis and other cardiomypopathies
  • Carrier testing in at-risk family members
  • Prenatal diagnosis in families with a known pathogenic variant
  • Capillary Sequencing

Ordering

363
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Dried Blood Spots | Buccal Swabs

Billing

81404x1
No
Yes
  • 277.3 Amyloidosis
  • 425.7 Nutritional and metabolic cardiomyopathy; Code first underlying disease, as: amyloidosis (277.30-277.39), beriberi (265.0), cardiac glycogenosis (271.0), mucopolysaccharidosis (277.5), thyrotoxicosis (242.0-242.9)
  • 277.39 Other amyloidosis, Hereditary cardiac amyloidosi,s Inherited systemic amyloidosis, Neuropathic (Portuguese) (Swiss) amyloidosis, Secondary amyloidosis
* For price inquiries please email zebras@genedx.com

New Billing Policy - Please contact your local genetic testing specialist for information on our updated reflex testing options

GeneDx aims to offer clinically relevant and comprehensive test panels, which are carefully researched, based on peer-reviewed research publications, and are reviewed by thought leaders in the cardiology and genetics communities. Each test result is written and reviewed by our specialized team of board-certified genetic counselors, cardiologists, and geneticists. All of our cardiology testing options include full sequencing and deletion/duplication analysis of all included genes, except where noted on the test requisition form.

Please download our Family History Questionnaire to assist in determining if the patient’s personal or family history is suggestive of a hereditary cardiac disorder and if they are a candidate for genetics follow-up.

Marfan/TAAD & Other Connective Tissue Panels

Cutis Laxa Panel

Forms and Documents

Test Details

ALDH18A1, ATP6V0A2, ATP6V1E1, ATP7A, EFEMP2, ELN, FBLN5, LTBP4, PYCR1, RIN2, SLC2A10
  • Molecular confirmation of a clinical diagnosis in symptomatic individuals
  • Risk assessment of asymptomatic family members of a proband diagnosed with a heritable connective tissue disorder
  • Genetic counseling and recurrence risk determination
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

T999
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81479x1
No
Yes
* For price inquiries please email zebras@genedx.com
Ehlers Danlos Panel

Forms and Documents

Test Details

COL3A1, COL5A1, COL5A2
  • Molecular confirmation of a clinical diagnosis in symptomatic individuals
  • Risk assessment of asymptomatic family members of a proband diagnosed with Ehlers-Danlos syndrome
  • Genetic counseling and recurrence risk determination
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

T998
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81479x1
No
Yes
* For price inquiries please email zebras@genedx.com
FBN1 Gene Sequencing & Del/Dup

Forms and Documents

Test Details

FBN1
  • Confirmation of clinical diagnosis in symptomatic patients
  • Risk assessment of asymptomatic family members of a proband with TAAD
  • Differentiation between familial TAAD, Marfan syndrome, Loeys-Dietz syndrome and phenotypically related disorders
  • Deletion/Duplication Analysis
  • Next-Gen Sequencing

Ordering

918
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81408x1, 81479x1
Yes
Yes
  • 441.9 Aortic aneurysm of unspecified site without mention of rupture Aneurysm Dilatation of aorta, Hyaline necrosis of aorta
  • 441.5 Aortic aneurysm of unspecified site, ruptured Rupture of aorta NOS
  • 759.82 Marfan syndrome
  • 759.7 Multiple congenital anomalies, so described Congenital: anomaly, multiple NOS deformity, multiple NOS
  • 512.8 Other spontaneous pneumothorax Pneumothorax
  • 754.81 Pectus excavatum Congenital funnel chest
  • 737.43 Scoliosis
  • 701.3 Striae atrophicae, Atrophic spots of skin, Atrophoderma maculatum, Atrophy blanche (of Milian), Degenerative colloid atrophy, Senile degenerative atrophy, Striae distensae
  • 379.32 Subluxation of lens
  • 441.00 Unspecified site
* For price inquiries please email zebras@genedx.com
Heritable Disorders of Connective Tissue Panel

Forms and Documents

Test Details

ACTA2, ADAMTS2, ALDH18A1, ATP6V0A2, ATP6V1E1, ATP7A, B3GALT6, B3GAT3, B4GALT7, BGN, CBS, CHST14, COL11A1, COL11A2, COL12A1, COL1A1, COL1A2, COL2A1, COL3A1, COL5A1, COL5A2, COL9A1, COL9A2, COL9A3, DSE, EFEMP2, ELN, FBLN5, FBN1, FBN2, FKBP14, FLNA, LOX, LTBP4, MAT2A, MED12, MFAP5, MYH11, MYLK, NOTCH1, PLOD1, PRDM5, PRKG1, PYCR1, RIN2, SKI, SLC2A10, SLC39A13, SMAD2, SMAD3, SMAD4, TGFB2, TGFB3, TGFBR1, TGFBR2, TNXB, ZNF469
  • Molecular confirmation of a clinical diagnosis in symptomatic individuals
  • Risk assessment of asymptomatic family members of a proband diagnosed with a heritable connective tissue disorder
  • Genetic counseling and recurrence risk determination
  • Deletion/Duplication Analysis
  • Next-Gen Sequencing

Ordering

J555
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81410x1, 81411x1
Yes
Yes
* For price inquiries please email zebras@genedx.com
Marfan/TAAD Panel

Forms and Documents

Test Details

ACTA2, BGN, CBS, COL3A1, COL5A1, COL5A2, FBN1, FBN2, FLNA, LOX, MAT2A, MED12, MFAP5, MYH11, MYLK, NOTCH1, PRKG1, SKI, SLC2A10, SMAD2, SMAD3, SMAD4, TGFB2, TGFB3, TGFBR1, TGFBR2
  • Confirmation of clinical diagnosis in symptomatic patients
  • Risk assessment of asymptomatic family members of a proband with TAAD
  • Differentiation between familial TAAD, Marfan syndrome, Loeys-Dietz syndrome and phenotypically related disorders.
  • Deletion/Duplication Analysis
  • Next-Gen Sequencing

Ordering

883
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81410x1, 81411x1
Yes
Yes
  • 441.9 Aortic aneurysm of unspecified site without mention of rupture Aneurysm Dilatation of aorta, Hyaline necrosis of aorta
  • 441.5 Aortic aneurysm of unspecified site, ruptured Rupture of aorta NOS
  • 759.82 Marfan syndrome
  • 759.7 Multiple congenital anomalies, so described Congenital: anomaly, multiple NOS deformity, multiple NOS
  • 512.8 Other spontaneous pneumothorax Pneumothorax
  • 754.81 Pectus excavatum Congenital funnel chest
  • 737.43 Scoliosis
  • 701.3 Striae atrophicae, Atrophic spots of skin, Atrophoderma maculatum, Atrophy blanche (of Milian), Degenerative colloid atrophy, Senile degenerative atrophy, Striae distensae
  • 379.32 Subluxation of lens
  • 441.00 Unspecified site
* For price inquiries please email zebras@genedx.com
Rest of Marfan/TAAD Sequencing & Del/Dup Panel

Forms and Documents

Test Details

ACTA2, BGN, CBS, COL3A1, COL5A1, COL5A2, FBN2, FLNA, LOX, MAT2A, MED12, MFAP5, MYH11, MYLK, NOTCH1, PRKG1, SKI, SLC2A10, SMAD2, SMAD3, SMAD4, TGFB2, TGFB3, TGFBR1, TGFBR2
  • Confirmation of clinical diagnosis in symptomatic patients
  • Risk assessment of asymptomatic family members of a proband with TAAD
  • Differentiation between familial TAAD, Marfan syndrome, Loeys-Dietz syndrome and phenotypically related disorders.
  • Deletion/Duplication Analysis
  • Next-Gen Sequencing

Ordering

919
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81405x2, 81406x2, 81408x1
Yes
Yes
* For price inquiries please email zebras@genedx.com
Stickler Syndrome Panel

Forms and Documents

Test Details

COL11A1, COL11A2, COL2A1, COL9A1, COL9A2, COL9A3
  • Molecular confirmation of a clinical diagnosis in symptomatic individuals
  • Risk assessment of asymptomatic family members of a proband diagnosed with a heritable connective tissue disorder
  • Genetic counseling and recurrence risk determination
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

TA02
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81479x1
No
Yes
* For price inquiries please email zebras@genedx.com

New Billing Policy - Please contact your local genetic testing specialist for information on our updated reflex testing options

GeneDx aims to offer clinically relevant and comprehensive test panels, which are carefully researched, based on peer-reviewed research publications, and are reviewed by thought leaders in the cardiology and genetics communities. Each test result is written and reviewed by our specialized team of board-certified genetic counselors, cardiologists, and geneticists. All of our cardiology testing options include full sequencing and deletion/duplication analysis of all included genes, except where noted on the test requisition form.

Please download our Family History Questionnaire to assist in determining if the patient’s personal or family history is suggestive of a hereditary cardiac disorder and if they are a candidate for genetics follow-up.

Lipidemia Panels

Familial Dyslipidemia Panel

Forms and Documents

Test Details

ABCA1, ABCG5, ABCG8, ANGPTL3, APOA1, APOA5, APOB, APOC2, APOC3, APOE, CETP, CYP27A1, CYP7A1, GCKR, GPD1, GPIHBP1, LCAT, LDLR, LDLRAP1, LIPA, LIPC, LMF1, LPL, MTTP, PCSK9, SAR1B, SCARB1, STAP1
  • Molecular confirmation of a clinical diagnosis in symptomatic individuals
  • Risk assessment of asymptomatic family members of a proband diagnosed with a heritable dyslipidemia disorder
  • Genetic counseling and recurrence risk determination
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

TA01
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81401x2; 81405x1; 81406x2
No
Yes
* For price inquiries please email zebras@genedx.com
Familial Hypercholesterolemia (FH) Panel

Forms and Documents

Test Details

APOB, LDLR, LDLRAP1, PCSK9
  • Molecular confirmation of a clinical diagnosis in symptomatic individuals
  • Risk assessment of asymptomatic family members of a proband diagnosed with FH
  • Differentiation of FH from acquired (non-genetic) forms of hypercholesterolemia
  • Genetic counseling and recurrence risk assessment
  • Deletion/Duplication Analysis
  • Next-Gen Sequencing

Ordering

J556
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81406x2, 81405x1, 81401x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

New Billing Policy - Please contact your local genetic testing specialist for information on our updated reflex testing options

GeneDx aims to offer clinically relevant and comprehensive test panels, which are carefully researched, based on peer-reviewed research publications, and are reviewed by thought leaders in the cardiology and genetics communities. Each test result is written and reviewed by our specialized team of board-certified genetic counselors, cardiologists, and geneticists. All of our cardiology testing options include full sequencing and deletion/duplication analysis of all included genes, except where noted on the test requisition form.

Please download our Family History Questionnaire to assist in determining if the patient’s personal or family history is suggestive of a hereditary cardiac disorder and if they are a candidate for genetics follow-up.

Custom Cardiac Panels

Custom Arrhythmia Panel

Forms and Documents

CREATE A CUSTOM PANEL

Test Details

  • Molecular confirmation of a clinical diagnosis in symptomatic individuals
  • Risk assessment of asymptomatic family members of a proband with arrhythmia
  • Differentiation of hereditary arrhythmia from acquired (non-genetic) arrhythmia
  • Recurrence risk calculation

Customizable Cardiology Panel

  • Deletion/Duplication Analysis
  • Next-Gen Sequencing

Ordering

695C
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81413x1, 81414x1
No
Yes
* For price inquiries please email zebras@genedx.com
Custom ARVC Panel

Forms and Documents

CREATE A CUSTOM PANEL

Test Details

  • Confirmation of a clinical diagnosis in symptomatic patients
  • Risk assessment of asymptomatic family members of a proband with ARVC
  • Differentiation of hereditary ARVC from other acquired or genetic heart conditions
  • Recurrence risk calculation with a known mutation

Customizable Cardiology Panel

  • Deletion/Duplication Analysis
  • Next-Gen Sequencing

Ordering

483C
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81406x5
No
Yes
* For price inquiries please email zebras@genedx.com
Custom Brugada Syndrome Panel

Forms and Documents

CREATE A CUSTOM PANEL

Test Details

  • Confirmation of a clinical diagnosis in Risk assessment of asymptomatic family members of a proband with Brugada syndrome
  • Recurrence risk calculation
  • Differentiation of hereditary BrS from other acquired or genetic heart conditions
  • Prenatal diagnosis in families with a known mutation

Customizable Cardiology Panel

  • Deletion/Duplication Analysis
  • Next-Gen Sequencing

Ordering

481C
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81404x1, 81406x1, 81407x1
No
Yes
* For price inquiries please email zebras@genedx.com
Custom Cardiology Panel

Forms and Documents

CREATE A CUSTOM PANEL

Test Details

  • Confirmation of clinical diagnosis in symptomatic patients
  • Genetic counseling and risk assessment of asymptomatic family members of a proband with a hereditary cardiovascular condition

Customizable Cardiology Panel

  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

J779
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

Varies by gene
No
Yes
* For price inquiries please email zebras@genedx.com
Custom Cardiomyopathy Panel

Forms and Documents

CREATE A CUSTOM PANEL

Test Details

  • Molecular confirmation of a clinical diagnosis in symptomatic patients
  • Risk assessment of asymptomatic family members of a proband with cardiomyopathy
  • Differentiation of hereditary cardiomyopathy from acquired (non-genetic) cardiomyopathy
  • Recurrence risk calculation

Customizable Cardiology Panel

  • Deletion/Duplication Analysis
  • Next-Gen Sequencing

Ordering

694C
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81439x1
No
Yes
* For price inquiries please email zebras@genedx.com
Custom Combined Cardiac Panel

Forms and Documents

CREATE A CUSTOM PANEL

Test Details

  • Molecular confirmation of a clinical diagnosis in symptomatic patients
  • Risk assessment of asymptomatic family members of a proband with cardiomyopathy and/or arrhythmia
  • Differentiation of hereditary cardiomyopathy and/or arrhythmia from acquired (non-genetic) cardiomyopathy and/or arrhythmia
  • Recurrence risk calculation

Customizable Cardiology Panel

  • Deletion/Duplication Analysis
  • Next-Gen Sequencing

Ordering

935C
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81413x1, 81414x1
No
Yes
* For price inquiries please email zebras@genedx.com
Custom CPVT Panel

Forms and Documents

CREATE A CUSTOM PANEL

Test Details

  • Confirmation of a clinical diagnosis in symptomatic patients
  • Risk assessment of asymptomatic family members of a proband with CPVT
  • Recurrence risk calculation
  • Differentiation of hereditary CPVT from other acquired or genetic heart conditions
  • Prenatal diagnosis in families with a known mutation

Customizable Cardiology Panel

  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

482C
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81403x1, 81405x1, 81408x1
No
Yes
* For price inquiries please email zebras@genedx.com
Custom DCM/LVNC Panel

Forms and Documents

CREATE A CUSTOM PANEL

Test Details

  • Confirmation of a clinical diagnosis in symptomatic patients
  • Risk assessment of asymptomatic family members of a proband with DCM/LVNC
  • Differentiation of hereditary DCM from acquired (non-genetic) causes of DCM/LVNC
  • Recurrence risk calculation

Customizable Cardiology Panel

  • Deletion/Duplication Analysis
  • Next-Gen Sequencing

Ordering

J554C
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81405x1, 81406x1, 81407x2
No
Yes
* For price inquiries please email zebras@genedx.com
Custom HCM Panel

Forms and Documents

CREATE A CUSTOM PANEL

Test Details

  • Confirmation of clinical diagnosis in symptomatic patients
  • Genetic counseling and risk assessment of asymptomatic family members of a proband with HCM
  • Differentiation of hereditary HCM associated with mutations in sarcomeric genes from phenocopies (i.e. Danon disease, Fabry disease, Noonan syndrome, Pompe disease, Amyloidosis)

Customizable Cardiology Panel

  • Deletion/Duplication Analysis
  • Next-Gen Sequencing

Ordering

J553C
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81405x1, 81406x1, 81407x2
No
Yes
* For price inquiries please email zebras@genedx.com
Custom HDCT Panel

Forms and Documents

CREATE A CUSTOM PANEL

Test Details

  • Molecular confirmation of a clinical diagnosis in symptomatic individuals
  • Risk assessment of asymptomatic family members of a proband diagnosed with a heritable connective tissue disorder
  • Genetic counseling and recurrence risk determination

Customizable Cardiology Panel

  • ExonArray CGH
  • Next-Gen Sequencing

Ordering

J555C
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81410x1, 81411x1
No
Yes
* For price inquiries please email zebras@genedx.com
Custom Hereditary Hemorrhagic Telangiectasia Panel

Forms and Documents

CREATE A CUSTOM PANEL

Test Details

  • Confirmation of a clinical diagnosis in symptomatic individuals
  • Identification of individuals at-risk for developing the disease
  • Recurrence risk assessment
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

697C
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81405x2; 81406x2
No
Yes
* For price inquiries please email zebras@genedx.com
Custom LQTS Panel

Forms and Documents

CREATE A CUSTOM PANEL

Test Details

  • Confirmation of a clinical diagnosis in symptomatic patients
  • Risk assessment for asymptomatic family members of a proband with LQTS
  • Differentiation of hereditary LQTS from acquired (non-genetic) causes of LQTS.
  • Prenatal diagnosis in families with a known pathogenic variant

Customizable Cardiology Panel

  • Deletion/Duplication Analysis
  • Next-Gen Sequencing

Ordering

727C
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81403x1, 81404x1, 81406x2, 81414x1
No
Yes
* For price inquiries please email zebras@genedx.com
Custom Marfan/TAAD & Related Disorders Panel
Custom Pulmonary Arterial Hypertension Panel

Forms and Documents

CREATE A CUSTOM PANEL

Test Details

  • Confirmation of a clinical diagnosis in symptomatic individuals
  • Identification of individuals at­?risk for developing the disease
  • Recurrence risk assessment
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

696C
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81405x2; 81406x2
No
Yes
* For price inquiries please email zebras@genedx.com
Custom SCA Arrhythmia Panel

Forms and Documents

CREATE A CUSTOM PANEL

Test Details

  • Genetic diagnosis in sudden unexplained death
  • Recurrence risk information for family members

Customizable Cardiology Panel

  • Deletion/Duplication Analysis
  • Next-Gen Sequencing

Ordering

J552C
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81413x1, 81414x1
No
Yes
* For price inquiries please email zebras@genedx.com
Custom SQTS Panel

Forms and Documents

CREATE A CUSTOM PANEL

Test Details

  • Confirmation of a clinical diagnosis in symptomatic patients
  • Risk assessment for asymptomatic family members of a proband with SQTS
  • Recurrence risk calculation
  • Prenatal diagnosis in families with a known mutation
  • Deletion/Duplication Analysis
  • Next-Gen Sequencing

Ordering

J551C
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81403x1, 81406x2
No
Yes
* For price inquiries please email zebras@genedx.com

New Billing Policy - Please contact your local genetic testing specialist for information on our updated reflex testing options

GeneDx aims to offer clinically relevant and comprehensive test panels, which are carefully researched, based on peer-reviewed research publications, and are reviewed by thought leaders in the cardiology and genetics communities. Each test result is written and reviewed by our specialized team of board-certified genetic counselors, cardiologists, and geneticists. All of our cardiology testing options include full sequencing and deletion/duplication analysis of all included genes, except where noted on the test requisition form.

Please download our Family History Questionnaire to assist in determining if the patient’s personal or family history is suggestive of a hereditary cardiac disorder and if they are a candidate for genetics follow-up.

Rest Of Cardiology Panels

Rest of Arrhythmia after Brugada Syndrome Panel

Forms and Documents

Test Details

AKAP9, ANK2, CALM1, CALM2, CALM3, CASQ2, CAV3, CTNNA3, DES, DSC2, DSG2, DSP, FLNC, GATA4, GATA5, GATA6, GJA5, GNB5, JUP, KCNA5 , KCNE1, KCNE1L(KCNE5), KCNE2, KCNJ2, KCNJ5, KCNQ1, LDB3, LMNA, MYL4, NKX2-5, PLN, PPA2, RANGRF, RYR2, SCN4B, SNTA1, TECRL, TGFB3, TMEM43, TRDN, TTN
  • Molecular confirmation of a clinical diagnosis in symptomatic individuals
  • Risk assessment of asymptomatic family members of a proband with arrhythmia
  • Differentiation of hereditary arrhythmia from acquired (non-genetic) arrhythmia
  • Recurrence risk calculation
  • Next-Gen Sequencing
  • ExonArray CGH

Ordering

481RE
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81406x2; 81408x1
Yes
Yes
* For price inquiries please email zebras@genedx.com
Rest of Arrhythmia after CPVT Panel

Forms and Documents

Test Details

ABCC9, AKAP9, CACNA1C, CACNA2D1, CACNB2, CAV3, CTNNA3, DES, DSC2, DSG2, DSP, FLNC, GATA4, GATA5, GATA6, GJA5, GNB5, GPD1L, HCN4, JUP, KCNA5 , KCND3, KCNE1, KCNE1L(KCNE5), KCNE2, KCNE3, KCNJ5, KCNJ8, KCNQ1, LDB3, LMNA, MYL4, NKX2-5, PKP2, PLN, PPA2, RANGRF, SCN10A, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SNTA1, TGFB3, TMEM43, TRPM4, TTN
  • Molecular confirmation of a clinical diagnosis in symptomatic individuals
  • Risk assessment of asymptomatic family members of a proband with arrhythmia
  • Differentiation of hereditary arrhythmia from acquired (non-genetic) arrhythmia
  • Recurrence risk calculation
  • Next-Gen Sequencing
  • ExonArray CGH

Ordering

482RE
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81404x1; 81406x2; 81407x1
Yes
Yes
* For price inquiries please email zebras@genedx.com
Rest of Arrhythmia after LQTS Panel

Forms and Documents

Test Details

ABCC9, CACNA2D1, CACNB2, CASQ2, CTNNA3, DES, DSC2, DSG2, DSP, FLNC, GATA4, GATA5, GATA6, GJA5, GNB5, GPD1L, HCN4, JUP, KCNA5 , KCND3, KCNE1L(KCNE5), KCNE3, KCNJ8, LDB3, LMNA, MYL4, NKX2-5, PKP2, PLN, PPA2, RANGRF, RYR2, SCN10A, SCN1B, SCN2B, SCN3B, TECRL, TGFB3, TMEM43, TRPM4, TTN
  • Molecular confirmation of a clinical diagnosis in symptomatic individuals
  • Risk assessment of asymptomatic family members of a proband with arrhythmia
  • Differentiation of hereditary arrhythmia from acquired (non-genetic) arrhythmia
  • Recurrence risk calculation
  • Next-Gen Sequencing
  • ExonArray CGH

Ordering

727RE
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81404s1; 81406x2; 81408x1
Yes
Yes
* For price inquiries please email zebras@genedx.com
Rest of Arrhythmia after SCA Panel

Forms and Documents

Test Details

ABCC9, AKAP9, CACNA1C, CACNA2D1, CACNB2, CTNNA3, DES, DSC2, DSG2, DSP, FLNC, GATA4, GATA5, GATA6, GJA5, GNB5, GPD1L, HCN4, JUP, KCNA5 , KCND3, KCNE1L(KCNE5), KCNE3, KCNJ5, KCNJ8, LDB3, LMNA, MYL4, NKX2-5, PKP2, PLN, RANGRF, SCN10A, SCN1B, SCN2B, SCN3B, SCN4B, SNTA1, TECRL, TGFB3, TMEM43, TRDN, TRPM4, TTN
  • Molecular confirmation of a clinical diagnosis in symptomatic individuals
  • Risk assessment of asymptomatic family members of a proband with arrhythmia
  • Differentiation of hereditary arrhythmia from acquired (non-genetic) arrhythmia
  • Recurrence risk calculation
  • Next-Gen Sequencing
  • ExonArray CGH

Ordering

J552RE
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81403x1; 81406x2
Yes
Yes
* For price inquiries please email zebras@genedx.com
Rest of Cardiomyopathy after DCM Panel

Forms and Documents

Test Details

AKAP9, ALPK3, BRAF, CAV3, CTNNA3, EYA4, FHL1, FKRP, GAA, GATA4, GLA, HFE, HRAS, JPH2, JUP, KRAS, MAP2K1, MAP2K2, MURC, MYL2, MYL3, MYLK2, MYOZ2, NRAS, PDLIM3, PKP2, PRKAG2, PTPN11, RIT1, SHOC2, SOS1, TGFB3, TMEM43, TOR1AIP1
  • Molecular confirmation of a clinical diagnosis in symptomatic patients
  • Risk assessment of asymptomatic family members of a proband with cardiomyopathy
  • Differentiation of hereditary cardiomyopathy from acquired (non-genetic) cardiomyopathy
  • Recurrence risk calculation
  • Next-Gen Sequencing
  • ExonArray CGH

Ordering

J554RE
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81404x2; 81405x2; 81406x2
Yes
Yes
* For price inquiries please email zebras@genedx.com
Rest of Cardiomyopathy after HCM Panel

Forms and Documents

Test Details

ABCC9, AKAP9, ALMS1, ANKRD1, BAG3, BRAF, CHRM2, CRYAB, CTNNA3, DES, DMD, DOLK, DSC2, DSG2, DSP, DTNA, EMD, EYA4, FKRP, FKTN, GATA4, GATAD1, HCN4, HFE, HRAS, ILK, JUP, KRAS, LAMA4, LDB3, LMNA, LRRC10, MAP2K1, MAP2K2, MIB1, MURC, MYLK2, MYPN, NEBL, NEXN, NKX2-5, NRAS, PDLIM3, PKP2, PRDM16, PTPN11, RBM20, RYR2, SCN5A, SGCD, SHOC2, SOS1, TAZ, TBX20, TGFB3, TMEM43, TMPO, TOR1AIP1, TTN, TXNRD2
  • Molecular confirmation of a clinical diagnosis in symptomatic patients
  • Risk assessment of asymptomatic family members of a proband with cardiomyopathy
  • Differentiation of hereditary cardiomyopathy from acquired (non-genetic) cardiomyopathy
  • Recurrence risk calculation
  • Next-Gen Sequencing
  • ExonArray CGH

Ordering

J553RE
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81404x2; 81405x1; 81406x2; 81407x1
Yes
Yes
* For price inquiries please email zebras@genedx.com
Rest of Combined Cardiac after Arrhythmia Panel

Forms and Documents

Test Details

ACTC1, ACTN2, ALMS1, ALPK3, ANKRD1, BAG3, BRAF, CHRM2, CRYAB, CSRP3, DMD, DOLK, DTNA, EMD, EYA4, FHL1, FKRP, FKTN, GAA, GATAD1, GLA, HFE, HRAS, ILK, JPH2, KRAS, LAMA4, LAMP2, LRRC10, MAP2K1, MAP2K2, MIB1, MTND1, MTND5, MTND6, MTTD, MTTG, MTTH, MTTI, MTTK, MTTL1, MTTL2, MTTM, MTTQ, MTTS1, MTTS2, MURC, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOZ2, MYPN, NEBL, NEXN, NRAS, PDLIM3, PRDM16, PRKAG2, PTPN11, RAF1, RBM20, RIT1, SGCD, SHOC2, SOS1, TAZ, TBX20, TCAP, TMPO, TNNC1, TNNI3, TNNT2, TOR1AIP1, TPM1, TTR, TXNRD2, VCL
  • Molecular confirmation of a clinical diagnosis in symptomatic patients
  • Risk assessment of asymptomatic family members of a proband with cardiomyopathy and/or arrhythmia
  • Differentiation of hereditary cardiomyopathy and/or arrhythmia from acquired (non-genetic) cardiomyopathy and/or arrhythmia
  • Recurrence risk calculation
  • Next-Gen Sequencing
  • ExonArray CGH

Ordering

695RE
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81404x1; 81405x2; 81406x2; 81407x1
Yes
Yes
* For price inquiries please email zebras@genedx.com
Rest of Combined Cardiac after ARVC Panel

Forms and Documents

Test Details

ABCC9, ACTC1, ACTN2, AKAP9, ALMS1, ALPK3, ANK2, ANKRD1, BAG3, BRAF, CACNA1C, CACNA2D1, CACNB2, CALM1, CALM2, CALM3, CASQ2, CAV3, CHRM2, CRYAB, CSRP3, DMD, DOLK, DTNA, EMD, EYA4, FHL1, FKRP, FKTN, GAA, GATA4, GATA5, GATA6, GATAD1, GJA5, GLA, GNB5, GPD1L, HCN4, HFE, HRAS, ILK, JPH2, KCNA5 , KCND3, KCNE1, KCNE1L(KCNE5), KCNE2, KCNE3, KCNJ2, KCNJ5, KCNJ8, KCNQ1, KRAS, LAMA4, LAMP2, LRRC10, MAP2K1, MAP2K2, MIB1, MTND1, MTND5, MTND6, MTTD, MTTG, MTTH, MTTI, MTTK, MTTL1, MTTL2, MTTM, MTTQ, MTTS1, MTTS2, MURC, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYL4, MYLK2, MYOZ2, MYPN, NEBL, NEXN, NKX2-5, NRAS, PDLIM3, PPA2, PRDM16, PRKAG2, PTPN11, RAF1, RANGRF, RBM20, RIT1, SCN10A, SCN1B, SCN2B, SCN3B, SCN4B, SGCD, SHOC2, SNTA1, SOS1, TAZ, TBX20, TCAP, TECRL, TMPO, TNNC1, TNNI3, TNNT2, TOR1AIP1, TPM1, TRDN, TRPM4, TTR, TXNRD2, VCL
  • Molecular confirmation of a clinical diagnosis in symptomatic patients
  • Risk assessment of asymptomatic family members of a proband with cardiomyopathy and/or arrhythmia
  • Differentiation of hereditary cardiomyopathy and/or arrhythmia from acquired (non-genetic) cardiomyopathy and/or arrhythmia
  • Recurrence risk calculation
  • Next-Gen Sequencing
  • ExonArray CGH

Ordering

483RE
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81405x2; 81406x2; 81407x1
Yes
Yes
* For price inquiries please email zebras@genedx.com
Rest of Combined Cardiac after Cardiomyopathy Panel

Forms and Documents

Test Details

ANK2, CACNA1C, CACNA2D1, CACNB2, CALM1, CALM2, CALM3, CASQ2, GATA5, GATA6, GJA5, GNB5, GPD1L, KCNA5 , KCND3, KCNE1, KCNE1L(KCNE5), KCNE2, KCNE3, KCNJ2, KCNJ5, KCNJ8, KCNQ1, MYL4, PPA2, RANGRF, SCN10A, SCN1B, SCN2B, SCN3B, SCN4B, SNTA1, TECRL, TRDN, TRPM4
  • Molecular confirmation of a clinical diagnosis in symptomatic patients
  • Risk assessment of asymptomatic family members of a proband with cardiomyopathy and/or arrhythmia
  • Differentiation of hereditary cardiomyopathy and/or arrhythmia from acquired (non-genetic) cardiomyopathy and/or arrhythmia
  • Recurrence risk calculation
  • Next-Gen Sequencing
  • ExonArray CGH

Ordering

694RE
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81403x1; 81406x2
Yes
Yes
* For price inquiries please email zebras@genedx.com
Rest of Heritable Disorders of Connective Tissue after Marfan/TAAD Panel

Forms and Documents

Test Details

ADAMTS2, ALDH18A1, ATP6V0A2, ATP6V1E1, ATP7A, B3GALT6, B3GAT3, B4GALT7, CHST14, COL11A1, COL11A2, COL12A1, COL1A1, COL1A2, COL2A1, COL9A1, COL9A2, COL9A3, DSE, EFEMP2, ELN, FBLN5, FBN1, FKBP14, LTBP4, PLOD1, PRDM5, PYCR1, RIN2, SLC39A13, TNXB, ZNF469
  • Molecular confirmation of a clinical diagnosis in symptomatic individuals
  • Risk assessment of asymptomatic family members of a proband diagnosed with a heritable connective
  • tissue disorder
  • Genetic counseling and recurrence risk determination
  • Next-Gen Sequencing
  • ExonArray CGH

Ordering

883RE
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81408x2; 81479x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

New Billing Policy - Please contact your local genetic testing specialist for information on our updated reflex testing options

GeneDx aims to offer clinically relevant and comprehensive test panels, which are carefully researched, based on peer-reviewed research publications, and are reviewed by thought leaders in the cardiology and genetics communities. Each test result is written and reviewed by our specialized team of board-certified genetic counselors, cardiologists, and geneticists. All of our cardiology testing options include full sequencing and deletion/duplication analysis of all included genes, except where noted on the test requisition form.

Please download our Family History Questionnaire to assist in determining if the patient’s personal or family history is suggestive of a hereditary cardiac disorder and if they are a candidate for genetics follow-up.

FAQ

Q: How is genetic testing for inherited cardiac disorders performed at GeneDx?


A:Once a specimen is received at GeneDx, it goes through the following steps:

  1. Next Generation Sequencing: Multiple genes offered in a test panel are analyzed simultaneously using a new technology developed for high-throughput sequencing (“next generation sequencing”) to achieve high sensitivity with high efficiency. This method is also flexible and permits adding new genes to the existing panel without delay or significant cost increase.
  2. Confirmation of Results by Dideoxy Sequencing: All mutations identified by next generation sequencing are confirmed by traditional dideoxy sequencing, or another appropriate method.
  3. Additional Studies to Evaluate Variants of Unknown Significance (VOUS): When indicated, the presence or absence of novel sequence variants in representative, ethnically-matched control populations is evaluated using either publicly available resources or targeted laboratory studies.
  4. Result Interpretation and Reporting: Results are analyzed and interpreted at minimum by a geneticist and a genetic counselor, and are then reported to the ordering physician.
  5. Experts Are Only a Phone Call or Email Away: At GeneDx, our technical services are matched by our expertise and customer support. Our growing staff includes more than 30 experts in molecular and clinical genetics, cardiology and genetic counseling, who are just a phone call or email away. Our team works together on each individual case to provide unequivocal test sensitivity, efficiency and expertise. Genetic counselors are available to answer your questions and help manage patient cases through the testing experience.

Q:What is the significance of follow-up testing for family members?


A:Identification of a disease-causing mutation in an affected individual allows for mutation-specific genetic testing of at-risk family members. This includes family members who are clinically asymptomatic and who may have normal cardiac evaluations. Knowing whether at-risk family members harbor the disease-causing mutation can provide information for subsequent medical management and treatment, risk-assessments and prenatal diagnosis in future pregnancies if desired.

For more information on carrier testing, please click here.

For more information on prenatal diagnosis, please click here

 

Q:What is the utility of genetic testing for such diseases?


A:There are several reasons an individual or family may be referred for genetic testing in cardiac disorders. Genetic testing in a clinically affected patient can clarify the diagnosis, assist in treatment decisions and stratify risk management of family members. Diagnostic genetic testing can also help in differential diagnosis. For example, genetic testing in patients with symptoms of HCM can differentiate hereditary HCM from heart disease due to other causes, such as “Athlete’s Heart” and from HCM associated with mutations in sarcomeric genes from phenocopies, such as Fabry disease and Amyloidosis. Mutation-specific testing assists in risk assessment of asymptomatic family members, and if desired, prenatal testing is available.

Q:What information could come from performing a genetic test for cardiac disorders?


A:The table below shows possible outcomes for an individual who opts for genetic testing::

Clinical Presentation
Genetic Testing Result
Patient should continue to be followed by a cardiologist.
Management
Recommendations for Family Members
+
Positive
True positive. Mutation identified is disease-causing.
Patient should continue to be followed by a cardiologist.
Testing of family members is recommended. Those with negative results are not at an increased risk for the disease.

 

+
Negative
Genetic testing does not rule out the disease.
Patient should continue to be followed by a cardiologist
Testing of family members not indicated, however, clinical follow up is recommended.

 

+
VOUS
Genetic testing at this time is uninformative.
Patient should continue to be followed by a cardiologist. Testing of additional family members is necessary.
If symptomatic family members are found to have the same variant, it is more likely that the variant is disease-causing. If symptom free family members have the same variant, it is more likely that the variant is benign.

 

Cardiogenetics Variant Testing Program (VTP)

Laboratories classify genetic changes as variants of uncertain significance (VUS) if there is incomplete or conflicting information about the health consequences of the variant. In some cases, testing family members for the presence or absence of the VUS may contribute to a better understanding of the variant and may be one piece of evidence leading to eventual reclassification of a VUS as a pathogenic, likely pathogenic, benign, or likely benign variant. For such cases, GeneDx has established a Variant Testing Program (VTP).

How do I determine if a variant is eligible for the Cardiogenetics VTP?

GeneDx considers requests for the Cardiogenetics VTP for any individual found to have a VUS identified by a GeneDx Cardiogenetics Panel. These studies will be performed at no additional charge for select and pre-approved family members who meet certain criteria and for whom appropriate clinical information is provided. Please note that GeneDx requires specific clinical documentation to ensure the most informative family members are tested. GeneDx will make the final determinations for VTP in its sole discretion.

GeneDx will test up to two affected family members at no charge through the Cardiogenetics VTP. If the family history is completely negative, then testing of both parents is available at no additional charge to determine if the variant has occurred de novo.

Application process for the Cardiogenetics VTP:

  • Please fax a detailed pedigree and any relevant clinical information/evaluations to the GeneDx Cardiogenetics genetic counselors at 301-519-2892, email genedx@genedx.com, or call 301-519-2100 and ask to speak with a Cardiogenetics genetic counselor. Please be sure to indicate that you are submitting the information for Cardiogenetics VTP consideration, and include the name and/or GeneDx accession number of the proband.
  • Our team will review the case and will determine if there are informative family members appropriate for evaluation through the VTP. Cases are typically reviewed within a few days, but please allow up to 3 weeks after receipt of the application for a reply.
  • Please note that in order to qualify for the Cardiogenetics VTP, we require detailed clinical records and may require documentation of specific studies, such as an echocardiogram or electrocardiogram (EKG or ECG), even for at-risk family members who are clinically asymptomatic.
    • Clinical information provided only on a requisition form or by verbal communication is not sufficient since this information is often more limited in scope.
    • Because the clinical information is being used to assess the segregation of a variant with disease in the family, detailed clinical records and the submission of a pedigree or family history information are required.
  • A member of our team will contact the ordering provider or genetic counselor after the case has been reviewed to let him/her know if the family has been accepted in the VTP. If we are extending an offer for family member variant testing at no additional charge, we will discuss logistics of sample submission at that time.

Reasons why a family might not be accepted into the Cardiogenetics VTP:

  • There are no informative family members available for testing.
  • The variant is present with an allele frequency that is higher than expected for a pathogenic variant based on the prevalence of the disease in the population and on genetic heterogeneity, so familial segregation studies will not be informative.
  • The variant is in a gene that does not correspond with the disease phenotype in the family.
  • In certain circumstances, it may be more informative to perform more comprehensive diagnostic genetic testing in affected family member(s) instead of targeted testing of one or more unaffected relatives for a VUS.

Revising the classification of variants of uncertain significance takes a great deal of data and information from multiple sources.  Therefore, there is no guarantee that participation in the Variant Testing Program will lead to an updated classification of a VUS based on information from a single family, although cumulative data collected from multiple families over time may lead to a more definitive classification for a variant.

For more information please contact:
The GeneDx Cardiogenetics Genetic Counselors at 301-519-2100