Test Code: PNL128

Haemolytic anaemia, Hereditary - Panel (72 Genes)

Haematogenetics
Our Hereditary Haemolytic Anaemia NGS Gene Panel analyses 68 genes associated with inherited disorders of red blood cell (RBC) membrane structure, RBC enzyme function, haemoglobin synthesis, and congenital dyserythropoiesis. This panel aids in the differential diagnosis of hereditary haemolytic anaemias, guiding appropriate management and 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

72 genes
ABCG5 ABCG8 ADA ADAMTS13 AHSP AK1 ALAS2 ALDOA ANK1 ATP11C BCL11A BPGM C3 CASP10 CD46 CD59 CDAN1 CDIN1 CFB CFHR5 CFI COL4A1 CPOX CYB5R3 DGKE EPB41 EPB42 FAS FASLG FOXP3 G6PD GATA1 GCLC GPI GPX1 GSR GSS GYPC HBA1 HBA2 HBB HK1 HMOX1 IL2RB KCNN4 KIF23 KLF1 KRAS LCAT LPIN2 LRBA NRAS NT5C3A PFKM PFKL PGK1 PGLS PIEZO1 PKLR RHAG RHCE SEC23B SLC2A1 SLC4A1 SLCO1B1 SLCO1B3 SPTA1 SPTB THBD TMPRSS6 TPI1 UROS

Methodology

Capture-based target enrichment and Next Generation Sequencing and MLPA

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