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ADAMTS13 Sequence Analysis

Order Code: 1300

Test Information

Sequence analysis of the ADAMTS13 gene detects germline variants associated with autosomal recessive congential ADAMTS13 deficiency (also known as familial / inherited thrombotic thrombocytopenia purpura (TTP)) and Upshaw-Schulman syndrome.

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

81479

Method

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

DEX Z-Code™

Yes, visit app.dexzcodes.com

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