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Condition



Test Name

Dyskeratosis congenita gene panel[Expedited TAT]

Inclusive Genes



ACD, CTC1, DKC1, NHP2, NOP10, PARN, RTEL1, TERT, TINF2, WRAP53

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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