Congenital heart disease NGS panel
Connective Tissue Gene Tests Congenital heart disease NGS panel consists of sixteen genes: CHD7, ELN, GATA4, GATA6, GDF1, JAG1, NKX2-5, NKX2-6, NOTCH1, NOTCH2, NR2F2, TAB2, TBX1, TBX5, TBX20 and ZIC3.
Copy number variation (CNV) analysis of the Congenital heart disease genes is also offered as a panel. Additionally, CTGT offers a comprehensive test (both NGS and CNV panels) for these genes. Panel genes are also offered as individual sequencing and deletion/duplication tests unless otherwise indicated.
Gene | Disorder | MIM | Inheritance |
CHD7 | CHARGE syndrome | 214800 | AD |
ELN | Supravalvular aortic stenosis | 185500 | AD |
GATA4 | Atrial septal defect 2 Atrioventricular septal defect 4 Ventricular septal defect 1 Tetralogy of Fallot |
607941 614430 614429 187500 |
AD |
GATA6 | Atrial septal defect 9 Atrioventricular septal defect 5 Persistent truncus arteriosus Tetralogy of Fallot Pancreatic agenesis and congential heart defects |
614475 614474 217095 187500 600001 |
AD |
GDF1 | Double-outlet right ventricle Tetralogy of Fallot Transposition of great arteries, dextro-looped 3 Right atrial isomerism |
217095 187500 613854 208530 |
AD AD AD AR |
JAG1 | Alagille syndrome Tetralogy of Fallot |
118450 187500 |
AD |
NKX2-5 | Atrial septal defect 7 Ventricular septal defect 3 Conotruncal heart malformations Hypoplastic left heart syndrome 2 Tetralogy of Fallot |
108900 614432 217095 614435 187500 |
AD |
NKX2-6 | Conotruncal heart malformations Persistent truncus arteriosus |
217095 | AR |
NOTCH1 | Aortic valve disease 1 Adams-Oliver syndrome 5 |
109730 616028 |
AD |
NOTCH2 | Alagille syndrome 2 Hajdu-Cheney syndrome |
610205 102500 |
AD |
NR2F2 | Congenital heart defects, multiple types, 4 | 615779 | AD |
TAB2 | Congenital heart defects, multiple types, 2 | 614980 | AD |
TBX1 | DiGeorge syndrome Velocardiofacial syndrome Conotruncal anomaly face syndrome Tetralogy of Fallot |
188400 192430 217095 187500 |
AD |
TBX5 | Holt-Oram syndrome | 142900 | AD |
TBX20 | Atrial septal defect 4 | 611363 | AD |
ZIC3 | Congenital heart defects, nonsyndromic, 1, X-linked Heterotaxy, visceral, 1, X-linked |
306955 | XLR |
Genes(s)
Disease Group(s)
Billing
Ordering
The American Medical Association (AMA) Current Procedural Terminology (CPT) codes published by HNL Lab Medicine are guidelines and are intended for informational purposes only. CPT coding is the exclusive responsibility of the billing entity. HNL Lab Medicine strongly recommends confirmation of CPT codes with third-party payors and/or the AMA. We assume no responsibility for billing errors due to reliance upon CPT codes provided by HNL Lab Medicine.