Xpanded^® - Congenital Heart Defects Panel

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

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

Lab Method

• Next-Gen Sequencing