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Condition



Test Name

Bone marrow failure syndrome gene panel[Expedited TAT]

Inclusive Genes



ADAMTS13, AK2, ANKRD26, ATR, BRCA1, BRCA2, BRIP1, CEBPA, CECR1, CSF3R, CTC1, CYCS, DDX41, DKC1, DNAJC21, ELANE, ERCC4, ERCC6L2, ETV6, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FYB, G6PC3, GATA1, GATA2, GFI1, GFI1B, HAX1, HOXA11, JAGN1, LIG4, MECOM, MPL, MYH9, NBN, NHP2, NOP10, PALB2, PARN, PAX5, RAB27A, RAD51, RAD51C, RBM8A, RMRP, RPL11, RPL15, RPL19, RPL23, RPL26, RPL27, RPL31, RPL35A, RPS10, RPS15, RPS19, RPS24, RPS26, RPS27, RPS27A, RPS28, RPS29, RPS7, RTEL1, RUNX1, SAMD9, SAMD9L, SBDS, SLX4, SRC, SRP72, STIM1, TAZ, TCIRG1, TERC, TERT, TINF2, TP53, TSR2, UBE2T, USB1, VPS13B, VPS45, WAS, 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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