Happy holidays! Please be advised that in-transit patient samples will be held by the carrier on Dec. 25 and received by our lab the next day. Kit orders placed on Dec. 25 will be sent on Dec. 26. Our genetic counseling services, client services, and billing services will be unavailable Dec. 24-25; please leave us a message at 888-729-1206 or [email protected] and we will respond when we return.

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*

81439x1

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.

**Turnaround times are estimates and begin once the sample(s) begin processing at the GeneDx lab and could be extended in situations outside GeneDx’s control.