Congenital heart disease NGS panel
Number of Panel Genes16
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.
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 |
Gene(s)
CHD7
ELN
GATA4
GATA6
GDF1
JAG1
NKX2-5
NKX2-6
NOTCH1
NOTCH2
NR2F2
TAB2
TBX1
TBX20
TBX5
ZIC3
Disease Group
Cardiovascular disorders
Methodology
Billing
CPT Code(s)
81405 x 1, 81406 x 1, 81407 x 1, 81479 x 1
Ordering
Test Code
5150
Additional Test Codes
5148 —Next Generation Sequencing Only, 5149 — Deletion / Duplication Only
Turnaround Time
Typically 2 to 4 weeks from receipt of a sample in the laboratory. All cases involving ongoing pregnancies will be expedited.
Prenatal Specimens
Cultured cells: 2 confluent T-25 flasks derived from amnio or CVS samples
Genomic DNA: minimum of 3 µg (at a concentration of at least 30 ng/µl)
Genomic DNA: minimum of 3 µg (at a concentration of at least 30 ng/µl)
Non-Prenatal Specimens
Whole blood: purple-top (EDTA) tube, minimum of 3 ml
Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
Fibroblasts: 2 confluent T-25 flasks
Saliva: only samples collected in Oragene DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children are accepted
Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
Fibroblasts: 2 confluent T-25 flasks
Saliva: only samples collected in Oragene DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children are accepted
Shipping
Ship all specimen types at room temperature by overnight courier. Do not freeze.
