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Test Code: PNL103

Erythrocyte (red cell) Enzymopathies (15 Genes)

Haematogenetics
Our Erythrocyte Enzymopathies NGS Gene Panel analyses 15 genes associated with inherited red blood cell enzyme disorders. These conditions often present with hereditary non-spherocytic haemolytic anaemia (HNSHA), neonatal hyperbilirubinaemia, or drug-induced haemolysis. This panel aids in accurate diagnosis, guiding management, and informing family counselling.
Sample Type
3 ml peripheral blood in EDTA (purple/pink top) tube
Turnaround Time
3 weeks days
Courier Requirements
Ship overnight at room temperature to receive next day. Do not refrigerate or freeze. Maintain specimen at room temperature.
Pricing

Genes Analyzed

15 genes
AK1 ALDOA G6PD GCLC GPI GSR GSS HK1 HMOX1 NT5C3A PFKM PGK1 PGLS PKLR TPI1

Methodology

Capture-based target enrichment and Next Generation Sequencing
Test Actions
Specifications
  • Test Code PNL103
  • Category Haematogenetics
  • Sample 3 ml peripheral blood in EDTA (purple/pink top) tube
  • TAT 3 weeks days
  • Courier Ship overnight at room temperature to receive next day. Do not refrigerate or freeze. Maintain specimen at room temperature.
  • Genes 15 genes analyzed
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