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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
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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
CPT Codes Icon
CPT Codes
  • 81479
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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