Ordering Recommendation

Consider for symptomatic individuals who meet 3 or 4 clinical criteria for HHT (recurrent epistaxis, mucocutaneous telangiectases at characteristic sites, internal AVMs, or first-degree relative with HHT).

Mnemonic
HHT PANEL
Methodology

Massively Parallel Sequencing/Exonic Oligonucleotide-based CGH Microarray

Performed

Varies

Reported

3-6 weeks

New York DOH Approval Status
Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.
Specimen Required
Patient Preparation
Collect

Lavender (EDTA) or yellow (ACD Solution A or B).

Specimen Preparation

Transport 3 mL whole blood. (Min: 1 mL)

Storage/Transport Temperature

Refrigerated.

Unacceptable Conditions
Remarks

Submit the Patient History Form for HHT with the Electronic Packing List.

Stability

Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable

Reference Interval

By report

Interpretive Data

Refer to report.

Compliance Category

Laboratory Developed Test (LDT)

Note

GENES TESTED: ACVRL1, ENG, EPHB4**, GDF2, RASA1, SMAD4
 
** Deletion/duplication detection is not available for this gene.

Hotline History
N/A
CPT Codes

81405; 81406; 81479

Components
Component Test Code* Component Chart Name LOINC
2009338 HHT Panel Specimen
2009341 HHT Panel Interpretation
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.
Aliases
  • CM/AVM
  • JPS
  • juvenile polyposis syndrome
  • Osler-Weber-Rendu syndrome
  • Parkes Weber syndrome
Hereditary Hemorrhagic Telangiectasia (HHT) Panel, Sequencing and Deletion/Duplication