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Condition



Test Name

Hemophagocytic lymphohistiocytosis (HLH) gene panel[Expedited TAT]

Inclusive Genes



AP3B1, BLOC1S6, CD27, ITK, LYST, MAGT1, PRF1, RAB27A, SH2D1A, SLC7A7, STX11, STXBP2, UNC13D, XIAP

Specimen Type

Peripheral blood/purified genomic DNA/chorionic villus sample (CVS)/Amniotic Fluid

Container

Transportation Temperature

20-25⁰C CVS at 2-8⁰C

Volume

Minimum 3ml of peripheral blood; minimum 1 microgram of DNA (concentration of 50-100ng/microliters); 300-500mg of CVS; Amniotic fluid of 15-20ml/T25 culture flask with 100% confluency

Methodology

Next Generation Sequencing

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