Test Code: PNL133

Hereditary red cell membrane disorders [including: hereditary spherocytosis, elliptocytosis, pyropoikilocytosis, and stomatocystosis] (14 Genes)

Haematogenetics

This targeted next‑generation sequencing panel analyzes genes associated with inherited defects of the red blood cell membrane, including hereditary spherocytosis, elliptocytosis, pyropoikilocytosis, and stomatocytosis. Mutations in these genes can lead to abnormal red cell structure, reduced stability, and hemolytic anemia.

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

14 genes

ABCB6 RHAG RHCE SLC2A1 ANK1 SPTB SPTA1 EPB41 EPB42 ABCG5 ABCG8 SLC4A1 GYPC HFE

Methodology

Capture-based target enrichment and Next Generation Sequencing.

Test Code PNL133
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 14 genes analyzed

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