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)

CHD7 TBX20 NKX2-6 TBX5 NOTCH1 GDF1 ZIC3 NR2F2 ELN NOTCH2 GATA4 JAG1 NKX2-5 GATA6 TAB2 TBX1

Disease Group(s)

Cardiovascular disorders

Billing

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)
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
Shipping
Ship all specimen types at room temperature by overnight courier. Do not freeze. For more details and to download the required forms, please visit our shipping page.

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.