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Autosomal Dominant Thrombocytopenia Panel

Order Code: 4865

Also Known as

aCGH, ACTB, ACTN1, ANKRD26, CDC42, CNV, CYCS, del, del/dup, deletion, DIAPH1, duplication, ETV6, FLI1, GFI1B, GP1BA, GP1BB, GP9, HOXA11, ITGA2B, ITGB3, MECOM, MYH9, RUNX1, SLFN14, SRC, STIM1, TUBB1

Test Information

This panel is designed for detection of germline variants in 22 genes known to cause thrombocytopenia, specifically inherited in an autosomal dominant manner. It can be ordered as: Next Generation Sequencing (NGS) only; NGS with reflex to Array Comparative Genomic Hybridization (aCGH); NGS with concurrent aCGH (both testing methodologies performed simultaneously); aCGH only

Sample Requirements

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

Shipping Information

Room Temperature or Refrigerated

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 EDTA whole blood

CPT Codes

0269U NGS; 81479 aCGH

Method

NGS: Capture hybridization and Next Generation Sequencing with supplementary PCR and bi-directional Sanger sequencing for quality and coverage; aCGH: CNV analysis of specific genes by high density gene-focused array Comparative Genomic Hybridization

Turnaround Time

"NGS only, aCGH only, or NGS and aCGH concurrently: 21 days NGS reflex to aCGH: 21 days (if NGS only, aCGH not needed) or 42 days (with reflex to aCGH)"

New York State Approval

Approved

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