4q25 Atrial fibrillation risk (886)

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Category:

CPT Code:

81479

Test Type: Whole Blood Kit Based
Stability Time:

Stability

Refrigerated: 14 days

Reference Range:

rs2200733

  • Optimal
    • Genotype C/C
  • Borderline
    • Genotype T/C
    • Genotype T/T

rs10033464

  • Optimal
    • Genotype G/G
  • Borderline
    • Genotype T/G
    • Genotype T/T

Overview:

This test identifies individuals with an increased risk of atrial fibrillation (AF) and stroke. The 4q25 gene locus is on chromosome 4, adjacent to the PITX2 gene, which is a transcription factor required for cardiac development and left-right asymmetry of the heart, and for normal sinus node formation. Two 4q25 variants rs2200733 and rs10033464, found in about 20% of the population, have been associated with a significant 1.4-1.5 fold increased risk of atrial fibrillation (4). This association has been observed in multiple studies, and is especially apparent in subjects over age 60 years. Reference: Gudbjartsson DF, Arnar DO, Helgadottir A, et al. Variants conferring risk of atrial fibrillation on chromosome 4q25. Nature. 2007;448:353-357.

  • rs2200733
    • Normal risk of atrial fibrillation (AF) and stroke
      • Genotype C/C
    • 1.5-fold increased risk of atrial fibrillation (AF) and stroke
      • Genotype T/C
      • Genotype T/T
  • rs10033464
    • Normal risk of atrial fibrillation (AF) and stroke
      • Genotype G/G
    • 1.4-fold increased risk of atrial fibrillation (AF) and stroke
      • Genotype T/G
      • Genotype T/T

Methodology - Real-time polymerase chain reaction (PCR)

Collection Details:

Collection Instructions:

Preferred Specimen

1.0 mL whole blood collected in EDTA (Lavender Top)

Transport Temperature

Refrigerated (ship on frozen cold packs)