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This test for platelet-type VWD provides sequencing of the full coding region (plus 30bp into the introns) of GPIBA. USA test status: This is a laboratory developed test (LDT). 

Genetic Test

EDTA Whole Blood, EDTA Bone Marrow, DNA, Buccal Swabs, Amniotic Fluid, Cultured Amniocytes, Direct or Cultured CVS, ACDA Whole Blood, ACDB Whole Blood, Na Heparin Whole Blood

3-5 mL EDTA Whole Blood or Bone Marrow (lavender top), 3-4 Buccal Swabs, >=1 ug DNA at >=50 ng/uL, 7-15 mL Amniotic Fluid, 5-10 mg CVS, 2-T25 flasks cultured amniocytes or CVS (2x10^6 minimum)

Fetal: Call Laboratory; Parental/Patient: 2 mL EDTA whole blood

Capture Hybridization and Next Generation Sequencing with supplementary PCR and Sanger sequencing for quality and coverage.

21 days

Yes

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