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. For patients with mutations not identified by full gene sequencing, a separate deletion/duplication assay is available using a targeted CGH array KP.
- Confirmation of a clinical diagnosis of NKX2-5-related congenital heart disease.
- Carrier testing in adults with a family history of NKX2-5-related congenital heart disease.
Submit only 1 of the following specimen types
Preferred specimen type: Whole Blood
Type: Whole Blood
Specimen Requirements:In EDTA (purple top) or ACD (yellow top) tube:
Infants (<2 years): 2-3 ml
Children (>2 years): 3-5 ml
Older Children & Adults: 5-10 ml
Specimen Collection and Shipping: Refrigerate until time of shipment. Ship sample within 5 days of collection at room temperature with overnight delivery.
Specimen Requirements:OrageneTM Saliva Collection kit (available through EGL) used according to manufacturer instructions.
Specimen Collection and Shipping: Store sample at room temperature. Ship sample within 5 days of collection at room temperature with overnight delivery.