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ELANE Sequence Analysis

Order Code: 5107

Also Known as

ELA2, Elastase Mutation

Disease State

Test Information

Sequence analysis of the ELANE gene detects germline variants associated with autosomal dominant severe congenital neutropenia and cyclic neutropenia.

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

14 days

New York State Approval

Approved

DEX Z-Code™

Yes, visit app.dexzcodes.com

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