Isolated Nonsyndromic Congenital Heart Disease: NKX2-5 Gene Deletion/Duplication

Condition Description

Mutations in the NKX2-5 gene have been associated with atrioventricular (AV) conduction block, septal defects, conotruncal abnormalities (particularly Tetrology of Fallot), and AV valve formation defects. Mutations in NKX2-5 have been observed in autosomal dominant pedigrees and isolated cases of congenital heart disease. Studies suggest that NKX2-5 mutation may be a frequent cause (up to 4%) of sporadic and familial congenital heart defects.

NKX2-5 mutation analysis is appropriate for patients with an atrioventricular conduction block or structural heart defects with or without a family history of congenital heart defects. Analysis includes sequencing the entire NKX2-5 coding region (2 exons) and immediate exon/intron boundaries. Mutations in other regulatory regions and large deletions will not be detected by this assay. Variants of unknown clinical significance may be detected. Custom mutation detection is available for known familial mutations.

Genes (1)

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This test is indicated for:
  • Confirmation of a clinical diagnosis of NKX2-5-related congenital heart disease in an individual in whom sequence analysis was negative.
  • Carrier testing in adults with a family history of NKX2-5-related congenital heart disease in whom sequence analysis was negative.


DNA isolated from peripheral blood is hybridized to a CGH array to detect deletions and duplications. The targeted CGH array has overlapping probes which cover the entire genomic region.


Detection is limited to duplications and deletions. The CGH array will not detect point or intronic mutations.

Results of molecular analysis must be interpreted in the context of the patient's clinical and/or biochemical phenotype.

Specimen Requirements

Listed below are EGL's preferred sample criteria. For any questions, please call 470.378.2200 and ask to speak with a laboratory genetic counselor (
Submit only 1 of the following specimen types
DNA, Isolated

Isolation using the Perkin Elmer™Chemagen™ Chemagen™ Automated Extraction method or Qiagen™ Puregene kit for DNA extraction is recommended.
Collection and Shipping
Refrigerate until time of shipment in 100 ng/µL in TE buffer. Ship sample at room temperature with overnight delivery.
Whole Blood (EDTA)

EDTA (Purple Top)
Infants and Young Children (<2 years of age): 2-3 ml
Children > 2 years of age to 10 years old: 3-5 ml
Older Children & Adults: 5-10 ml
Autopsy: 2-3 ml unclotted cord or cardiac blood
Collection and Shipping
Ship sample at room temperature for receipt at EGL within 72 hours of collection. Do not freeze.

Special Instructions

Please submit copies of diagnostic biochemical test results along with the sample. Contact the laboratory if further information is needed. Sequence analysis is required before deletion/duplication analysis by targeted CGH array. If sequencing is performed outside of EGL Genetics, please submit a copy of the sequencing report with the test requisition.

How to Order

Requisition Forms