Xpanded Congenital Heart Defects Panel

New York
Approved


Genes

A2ML1, ABCC9, ABL1, ACTA2, ACTB, ACTC1, ACTG1, ACVR1, ACVR2B, ADAMTS10, ADAMTS17, ADNP, AFF4, AHI1, AK7, ALG9, AMER1, ANKRD1, ANKS6, ARHGAP31, ARID1A, ARID1B, ARL13B, ARL2BP, ARL6, ARMC4, ASXL2, B3GLCT, B9D1, B9D2, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCL9L, BCOR, BRAF, BRIP1, C21orf59, C2CD3, CBL, CC2D2A, CCBE1, CCDC103, CCDC114, CCDC151, CCDC22, CCDC28B, CCDC39, CCDC40, CCDC65, CCNO, CD96, CDC42, CDK13, CDKN1C, CEP104, CEP120, CEP164, CEP290, CEP41, CEP57, CEP83, CFAP53, CFC1, CHD4, CHD7, CHUK, CITED2, CPLANE1, CREBBP, CRELD1, CSPP1, DCDC2, DCHS1, DDX11, DDX59, DHCR7, DLL4, DNAAF1, DNAAF2, DNAAF3, DNAAF5, DNAH1, DNAH11, DNAH5, DNAH6, DNAH9, DNAI1, DNAI2, DNAJB13, DNAL1, DNMT3A, DOCK6, DPH1, DRC1, DYNC2H1, DYNC2LI1, DYX1C1, ECE1, EFTUD2, EHMT1, ELN, EOGT, EP300, EPHB4, ERCC4, ESCO2, EVC, EVC2, EXOC8, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FLNA, FLT4, FOXC1, FOXC2, FOXH1, FTO, G6PC3, GALNT11, GAS8, GATA4, GATA5, GATA6, GDF1, GJA1, GJA5, GLIS2, GPC3, HAAO, HAND1, HES7, HNRNPK, HOXA1, HRAS, HYDIN, IFT122, IFT140, IFT172, IFT27, IFT43, IFT52, IFT57, IFT80, INPP5E, INTU, INVS, IQCB1, JAG1, KANSL1, KAT6A, KAT6B, KDM6A, KIAA0556, KIAA0586, KIAA0753, KIF11, KIF14, KIF7, KMT2D, KRAS, KYNU, LEFTY2, LRRC6, LTBP2, LTBP4, LZTFL1, LZTR1, MAD2L2, MAP2K1, MAP2K2, MAP3K7, MCIDAS, MCTP2, MED13L, MED25, MEGF8, MEIS2, MGP, MID1, MKKS, MKS1, MMP21, MYCN, MYH11, MYH6, MYH7, MYRF, NAA10, NAA15, NEK1, NEK2, NEK8, NF1, NFE2L2, NHS, NIPBL, NKX2-5, NKX2-6, NME8, NODAL, NOTCH1, NOTCH2, NPHP1, NPHP3, NPHP4, NR2F2, NRAS, NSD1, NSDHL, OFD1, PALB2, PBX1, PDE6D, PDGFRA, PIBF1, PIGA, PIGL, PIGN, PIGO, PIH1D3, PITX2, PKD1L1, PKD2, PLD1, POC1A, PPP1CB, PQBP1, PRDM6, PRKD1, PTPN11, RAB23, RAD21, RAD51, RAD51C, RAF1, RARB, RBFOX2, RBM10, RBPJ, RECQL4, RERE, RFWD3, RIT1, ROR2, RPGR, RPGRIP1L, RPL11, RPL15, RPL26, RPL27, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, RPS29, RPS6KA3, RRAS, RSPH1, RSPH3, RSPH4A, RSPH9, SALL1, SALL4, SCLT1, SDCCAG8, SEMA3E, SETBP1, SETD5, SLC2A10, SLX4, SMAD2, SMAD4, SMAD6, SMARCA2, SMARCA4, SMARCB1, SMARCE1, SMC1A, SMC3, SMG9, SON, SOS1, SOS2, SOX11, SPAG1, SPECC1L, STRA6, STRADA, TAB2, TBX1, TBX2, TBX20, TBX3, TBX5, TCTEX1D2, TCTN1, TCTN2, TCTN3, TFAP2B, TGDS, TKT, TLL1, TMEM107, TMEM138, TMEM216, TMEM231, TMEM237, TMEM260, TMEM67, TRAF7, TRAP1, TRIM32, TRRAP, TTC21B, TTC25, TTC8, TWIST1, UBE2T, UBR1, USP9X, WDPCP, WDR19, WDR34, WDR35, WDR60, WNT5A, XRCC2, ZEB2, ZFPM2, ZIC3, ZMYND10, ZNF423

Conditions

  • CHARGE Syndrome
  • Atrial Septal Defect
  • Atrioventricular Canal Defect
  • Atrioventricular Septal Defect
  • Coarctation of the Aorta
  • Congenital Heart Defect
  • Dextrocardia
  • Double Outlet Right Ventricle
  • Ebstein Anomaly
  • Hypoplastic Left Heart
  • Interrupted Aortic Arch
  • Laterality Defect
  • Left Ventricular Outflow Tract Obstruction
  • Patent Ductus Arteriosus
  • Patent Foramen Ovale
  • Pulmonary Stenosis
  • Single Ventricle
  • Situs Inversus
  • Tetralogy of Fallot
  • Total Anomalous Pulmonary Venous Return
  • Transposition of the Great Arteries
  • Ventricular Septal Defect
  • Multiple Congenital Anomalies
  • Cantu Syndrome
  • Cardiofaciocutaneous Syndrome
  • Carpenter Syndrome
  • Char Syndrome
  • Ellis-van Creveld Syndrome
  • Cornelia de Lange Syndrome
  • Costello Syndrome
  • Alagille syndrome
  • Heterotaxy
  • Holt-Oram syndrome
  • Joubert Syndrome
  • Kabuki syndrome (KS)
  • Meckel-Gruber Syndrome
  • Mowat-Wilson Syndrome
  • Noonan Syndrome
  • Smith-Lemli-Opitz Syndrome
  • Bardet-Biedl Syndrome
  • Coffin-Siris syndrome
  • Primary Ciliary Dyskinesia

Clinical Utility

  • Molecular confirmation of a clinical diagnosis
  • Identification of at-risk family members
  • Assist with treatment/management decisions
  • Recurrence risk assessment

Lab Method

  • Next-Gen Sequencing

Test Code

TJ07

CPT Codes*

81307x1; 81404x2; 81405x2; 81406x2; 81407x1; 81408x2

ABN Required

No

Turnaround Time**

6 weeks

Preferred Specimen

2-5 mL Blood - Lavender Top Tube

Alternative Specimen

Buccal Swabs | Extracted DNA

*The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

**Reporting times are typical and begin once the sample(s) are received at the GeneDx laboratory, but could be extended in situations outside GeneDx’s reasonable control.