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Autosomal Dominant Thrombocytopenia Panel

Order Code: 4865

Also Known as

ACTN1, ANKRD26, CYCS, ETV6, FLI1, GFI1B, GP1BA, GP1BB, GP9, ITGA2B, ITGB3, MYH9, RUNX1, TUBB1

Test Information

This specifically designed genetic panel is optimized for detection of germline variants in 14 genes known to cause thrombocytopenia, specifically inherited in an autosomal dominant manner

Sample Requirements

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

Shipping Information

Room Temperature

Requested Volume

2-5 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

Method

Capture Hybridization and Next Generation Sequencing (MiSeq)

Turnaround Time

21 days

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