Cardiology Genetic Testing Services

Cardiomyopathies

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
Buccal Swabs

Billing

81405x1, 81406x1, 81407x2
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
Buccal Swabs

Billing

81405x1, 81406x1, 81407x2
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, CAVIN4, 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, KCNE2, KCNE3, KCNE5, KCNH2, 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, 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
Buccal Swabs

Billing

81413x1, 81414x1
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, CAVIN4, 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, 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
Buccal Swabs

Billing

81439x1
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
Buccal Swabs

Billing

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

Arrhythmias

Sudden Cardiac Arrest Arrhythmia Panel

Forms and Documents

Test Details

ANK2, CALM1, CALM2, CALM3, CASQ2, CAV3, KCNE1, KCNE2, KCNH2, 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
Buccal Swabs

Billing

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

Forms and Documents

Test Details

CACNA1C, CACNB2, KCNH2, 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
Buccal Swabs

Billing

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

Forms and Documents

Test Details

  • 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
Buccal Swabs

Billing

81407x1; 81479x1
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, 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
Buccal Swabs

Billing

81403 x1, 81404x1, 81406x2, 81414x1
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, CAVIN4, 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, KCNE2, KCNE3, KCNE5, KCNH2, 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, 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
Buccal Swabs

Billing

81413x1, 81414x1
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
Buccal Swabs

Billing

81403x1, 81405x1, 81408x1
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, 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
Buccal Swabs

Billing

81404x1, 81406x1, 81407x1
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
Buccal Swabs

Billing

81406x5
Yes
Yes
* For price inquiries please email zebras@genedx.com
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, KCNE2, KCNE3, KCNE5, KCNH2, 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
Buccal Swabs

Billing

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

Other Cardiac Disorders

TTR Gene Sequencing

Forms and Documents

Test Details

  • 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
Dried Blood Spots | Buccal Swabs

Billing

81404x1
Yes
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
Holt-Oram Syndrome (TBX5)

Forms and Documents

Test Details

  • 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
  • Deletion/Duplication Analysis

Ordering

TB22
3 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

Billing

81405x1
No
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
Buccal Swabs

Billing

81405x2, 81406x2
Yes
Yes
* 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
Buccal Swabs | Extracted DNA

Billing

81442x1
Yes
Yes
* 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
Buccal Swabs

Billing

81405x2, 81406x2
Yes
Yes
* For price inquiries please email zebras@genedx.com
Supravalvular Aortic Stenosis / Autosomal Dominant Cutis Laxa (ELN)

Forms and Documents

Test Details

  • 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
  • Deletion/Duplication Analysis

Ordering

TA86
3 weeks
2-5 mL Blood - Lavender Top Tube
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
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
Buccal Swabs

Billing

81229x1
Yes
Yes
* For price inquiries please email zebras@genedx.com
Prothrombin (Factor II) Thrombophilia

Forms and Documents

Test Details

  • Testing for the c.*97G>A (c.20210G>A) variant in the F2 gene
  • A first unprovoked venous thromboembolism (VTE)
  • Recurrent VTE
  • Personal history of VTE with family history of VTE
  • VTE at unusual sites
  • Capillary Sequencing

Ordering

TF76
2 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs | Extracted DNA

Billing

81240x1
Yes
Yes
* For price inquiries please email zebras@genedx.com
Factor V Leiden Thrombophilia

Forms and Documents

Test Details

  • Testing for the factor V Leiden variant (p.R534Q) in the F5 gene
  • A first unprovoked venous thromboembolism (VTE)
  • Recurrent VTE
  • Personal history of VTE with family history of VTE
  • VTE at unusual sites
  • Low activated protein C resistance activity
  • Capillary Sequencing

Ordering

TF78
2 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs | Extracted DNA

Billing

81241x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

Marfan/TAAD & Other Connective Tissue Panels

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
Buccal Swabs

Billing

81479x1
No
Yes
* 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
Buccal Swabs

Billing

81405x3, 81406x1, 81408x1
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
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
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
Buccal Swabs

Billing

81410x1, 81411x1
Yes
Yes
* For price inquiries please email zebras@genedx.com
FBN1 Gene Sequencing & Del/Dup

Forms and Documents

Test Details

  • 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
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
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
Buccal Swabs

Billing

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

Billing

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

Lipidemia Panels

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
Buccal Swabs

Billing

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

Billing

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

Pediatric Cardiology

Pediatric Combined Cardiac

Forms and Documents

Test Details

ABCC9, ACTC1, ACTN2, AKAP9, ALMS1, ALPK3, ANK2, ANKRD1, BAG3, BRAF, CACNA1C, CACNA2D1, CACNB2, CALM1, CALM2, CALM3, CASQ2, CAV3, CAVIN4, 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, HRAS, ILK, JPH2, JUP, KCNA5 , KCNA5 , KCND3, KCNE1, KCNE2, KCNE3, KCNE5, KCNH2, 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, 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, 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
  • Deletion/Duplication Analysis
  • Mito Genome

Ordering

TF67
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs | Extracted DNA

Billing

81413x1; 81414x1
No
Yes
* For price inquiries please email zebras@genedx.com
Custom Pediatric Combined Cardiac

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
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis
  • Mito Genome

Ordering

TF67C
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs | Extracted DNA

Billing

81413x1; 81414x1
No
Yes
* For price inquiries please email zebras@genedx.com
Pediatric Cardiomyopathy

Forms and Documents

Test Details

ABCC9, ACTC1, ACTN2, AKAP9, ALMS1, ALPK3, ANKRD1, BAG3, BRAF, CAV3, CAVIN4, CHRM2, CRYAB, CSRP3, CTNNA3, DES, DMD, DOLK, DSC2, DSG2, DSP, DTNA, EMD, EYA4, FHL1, FKRP, FKTN, FLNC, GAA, GATA4, GATAD1, GLA, HCN4, 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, 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, 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
  • Mito Genome

Ordering

TF66
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

Billing

81439x1
No
Yes
* For price inquiries please email zebras@genedx.com
Custom Pediatric Cardiomyopathy

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
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis
  • Mito Genome

Ordering

TF66C
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

Billing

81439x1
No
Yes
* For price inquiries please email zebras@genedx.com
Rest of Pediatric Combined Cardiac after Pediatric Cardiomyopathy

Forms and Documents

Test Details

ANK2, CACNA1C, CACNA2D1, CACNB2, CALM1, CALM2, CALM3, CASQ2, GATA5, GATA6, GJA5, GNB5, GPD1L, KCNA5 , KCND3, KCNE1, KCNE2, KCNE3, KCNE5, KCNH2, 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
  • Differentiation of hereditary cardiomyopathy from acquired (non-genetic) cardiomyopathy
  • Recurrence risk calculation
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

TF66RE
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

Billing

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

Custom Cardiac Panels

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
Buccal Swabs

Billing

81403x1, 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
Buccal Swabs

Billing

81413x1, 81414x1
No
Yes
* For price inquiries please email zebras@genedx.com
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
Buccal Swabs

Billing

81405x2; 81406x2
No
Yes
* For price inquiries please email zebras@genedx.com
Custom Pediatric Combined Cardiac

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
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis
  • Mito Genome

Ordering

TF67C
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs | Extracted DNA

Billing

81413x1; 81414x1
No
Yes
* For price inquiries please email zebras@genedx.com
Custom Pediatric Cardiomyopathy

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
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis
  • Mito Genome

Ordering

TF66C
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

Billing

81439x1
No
Yes
* For price inquiries please email zebras@genedx.com
Custom Marfan/TAAD & Related Disorders Panel
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
Buccal Swabs

Billing

81403x1, 81404x1, 81406x2, 81414x1
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
Buccal Swabs

Billing

81405x2; 81406x2
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
Buccal Swabs

Billing

81410x1, 81411x1
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
Buccal Swabs

Billing

81405x1, 81406x1, 81407x2
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
Buccal Swabs

Billing

81405x1, 81406x1, 81407x2
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
Buccal Swabs

Billing

81403x1, 81405x1, 81408x1
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
Buccal Swabs

Billing

81413x1, 81414x1
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
Buccal Swabs

Billing

81439x1
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
Buccal Swabs

Billing

Varies by gene
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
Buccal Swabs

Billing

81404x1, 81406x1, 81407x1
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
Buccal Swabs

Billing

81406x5
No
Yes
* For price inquiries please email zebras@genedx.com
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
Buccal Swabs

Billing

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

Rest Of Cardiology Panels

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
Buccal Swabs

Billing

81408x2; 81479x1
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
Buccal Swabs

Billing

81403x1; 81406x2
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, CAVIN4, 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, 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
Buccal Swabs

Billing

81405x2; 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, CAVIN4, 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, 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
Buccal Swabs

Billing

81404x1; 81405x2; 81406x2; 81407x1
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, CAVIN4, 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, 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
Buccal Swabs

Billing

81404x2; 81405x1; 81406x2; 81407x1
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, CAVIN4, CTNNA3, EYA4, FHL1, FKRP, GAA, GATA4, GLA, HFE, HRAS, JPH2, JUP, KRAS, MAP2K1, MAP2K2, 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
Buccal Swabs

Billing

81404x2; 81405x2; 81406x2
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
Buccal Swabs

Billing

81403x1; 81406x2
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
Buccal Swabs

Billing

81404s1; 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
Buccal Swabs

Billing

81404x1; 81406x2; 81407x1
Yes
Yes
* For price inquiries please email zebras@genedx.com
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
Buccal Swabs

Billing

81406x2; 81408x1
Yes
Yes
* For price inquiries please email zebras@genedx.com
Rest of Pediatric Combined Cardiac after Pediatric Cardiomyopathy

Forms and Documents

Test Details

ANK2, CACNA1C, CACNA2D1, CACNB2, CALM1, CALM2, CALM3, CASQ2, GATA5, GATA6, GJA5, GNB5, GPD1L, KCNA5 , KCND3, KCNE1, KCNE2, KCNE3, KCNE5, KCNH2, 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
  • Differentiation of hereditary cardiomyopathy from acquired (non-genetic) cardiomyopathy
  • Recurrence risk calculation
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

TF66RE
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

Billing

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

Cardiology Variant Testing Program (VTP)

Laboratories classify genetic changes as variants of uncertain significance (VUS) if there is insufficient 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 either a positive or negative result.

We consider requests for the Cardiology Variant Testing Program (VTP) for any individual found to have a VUS through testing at our laboratory. There is no charge for targeted variant testing for approved family members.

Which family members may be eligible for the VTP:

  • Up to two affected family members may be approved to assess segregation.
  • If the family history is negative, both parents may be approved to assess de novo status.

Required documentation for consideration for the VTP:

  • Clinical records of proband to confirm presentation is consistent with gene-disease association
  • Detailed family history or pedigree
  • Clinical records of family members applying for the VTP (see table below)

 

Gene/Disease Association Minimum Required Documentation
Cardiomyopathy Echocardiogram
Arrhythmia Relevant cardiac evaluation
Thoracic aortic aneurysm/dissection Echocardiogram including aortic root dimension
Heritable disorders of connective tissue Clinical documentation of gene-relevant features
Dyslipidemia Lipid panel
Hereditary hemorrhagic telangiectasia (HHT) Clinical documentation of Curacao criteria

 
Please submit the required documentation to our cardiology genetic counselors via fax (201-421-2010), email (zebras@genedx.com), or call 301-519-2100 and ask to be speak to a cardiology genetic counselor. Please indicate you are submitting the information for cardiology VTP consideration and include the name and/or GeneDx accession number of the proband. Cases are typically reviewed within one week of receipt. After the request has been reviewed, a member of our VTP team will contact the ordering provider to discuss whether and which family members have been approved for the VTP or whether additional information is needed.

Reasons why a family might not be accepted into the Variant Testing Program:

  • The variant is in a gene that does not correspond to the documented presentation in the proband.
  • There are pathogenic or likely pathogenic variant(s) in the family that explain the disease.
  • There are no informative family members available for testing. (i.e. All affected relatives are deceased and/or unavailable, and no postmortem specimens are available.)
  • If both parents are not available in cases with a negative family history, we cannot accept only one parent as this does not aid in determining if a variant occurred de novo.

Reclassification of variants of uncertain significance requires substantial data and information from multiple sources. Therefore, there is no guarantee that participation in the Cardiology Variant Testing Program will lead to reclassification of a VUS.

For more information, please contact the cardiology genetic counselors at 301-519-2100