NKX2-5 encodes homeobox protein Nkx-2.5, which plays an important role in heart development.  Mutations in the NKX2-5 gene cause various autosomal dominant congenital heart malformations; atrial septal defect 7 (MIM 108900), conotruncal heart malformations (MIM 217095), hypoplastic left heart syndrome 2 (MIM 614435), tetralogy of Fallot (MIM 187500) and ventricular septal defect 3 (MIM 614432).


Tests Available

By gene: NKX2-5
Sanger Sequencing
Test Code: 2409
Deletion / Duplication
Test Code: 2410
NGS/Del Dup Comprehensive
Test Code: 2411

Test Details

Technical Information
Disease Groups: 
Cardiovascular Disorders
CPT Codes: 
81479 x 1
Turnaround Time: 
Typically 1 to 2 weeks from receipt of a sample in the laboratory. All cases involving ongoing pregnancies will be expedited.
Non-Prenatal Specimens: 
  1. Whole blood: purple-top (EDTA) tube, minimum of 3 ml
  2. Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
  3. Fibroblasts: 2 confluent T-25 flasks
  4. Saliva: only samples collected in Oragene DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children are accepted
Prenatal Specimens: 
  1. Cultured cells: 2 confluent T-25 flasks derived from amnio or CVS samples
  2. Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)

Ship all specimen types at room temperature by overnight courier. Do not freeze.

Search Tests

TIP: enter a partial disorder name or gene to widen your search