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4895

Hereditary Hemorrhagic Telangiectasia Panel

Order Code: 4895 Get Requisition Form
Test Information Icon
Test Information
This panel is designed for the detection of germline variants in 6 genes known to cause hereditary hemorrhagic telangiectasia:  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
Also Known As Icon
Also Known As
  • ACVRL1
  • ENG
  • EPHB4
  • GDF2
  • HHT
  • RASA1
  • SMAD4
Test Type Icon
Test Type
Genetic Test
Sample Notes Icon
Sample Notes
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
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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 Icon
Minimum / Pediatric Volume
Fetal: Call Laboratory; Parental/Patient: 2 mL EDTA whole blood
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Shipping Information
Room Temperature or Refrigerated
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CPT Codes
  • 81479
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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
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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)
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New York State Approval
If performed by NGS: Yes; If performed by aCGH: No
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DEX Z-Code™
Yes, visit app.dexzcodes.com