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Laboratory Test Directory

HHT Panel, Sequencing and Del/Dup


Name Method Department Units
H. Hemorrhagic Telangiectasia Exonic Oligonucleotide-based CGH Microarray
Massively Parallel Sequencing
Send Out Genetics

Specimen Requirements

Whole blood

Container Type Container Size Specimen Volume

Purple tube (EDTA)

3 mL 3 mL

Yellow tube (ACD-A)

8 mL 3 mL

Yellow tube (ACD-B)

8 mL 3 mL

Room temperature - 72 hour(s)
Refrigerated - 1 week(s)

Specimen Preparation

  • Transport to laboratory as soon as possible
  • Do not centrifuge
  • Do not freeze

Reasons for Rejection

  • Wrong collection tube
  • Centrifuged specimen
  • Clotted specimen
  • Delayed or improper handling
  • Frozen specimen


This test involves sequencing and deletionduplication analysis of five genes known to cause Hereditary Hemorrhagic Telangiectasia: ACVRL1/ALK1, BMP9/GDF2, ENG, RASA1, and SMAD4. Complete and submit the Patient History Form for HHT that is attached to this entry.

CPT Code

  • 81479