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Bernard-Soulier Syndrome Sequence Analysis

Order Code: 1290

Also Known as

Glycoprotein Ib/IX sequencing

Disease State

Test Information

Sequence analysis of GP1ba, GP1BB, and GPIX genes detects germline variants associated with Bernard-Soulier Syndrome an autosomal recessive disorder caused by bdeficiency in platelet glycoprotein (GP) Ib/IX ad characterized by macrothrombocytopenia and severe bleeding.

Sample Requirements

Amniotic Fluid, Buccal Swabs, Cultured Amniocytes, CVS, DNA, EDTA Bone Marrow, EDTA Whole Blood

Shipping Information

Room Temperature

Requested Volume

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)

Minimum/Pediatric Volume

Fetal: Call Laboratory; Parental/Patient: 2 ml

CPT Codes

81404, 81479


Capture hybridization and Next generation sequencing (MiSeq) with supplementary Sanger for quality and coverage or PCR and Bi-directional DNA sequencing.

Turnaround Time

21 days

New York State Approval


DEX Z-Code™

Yes, visit app.dexzcodes.com


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