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Hereditary Hemorrhagic Telangiectasia (HHT) Panel, Sequencing and Deletion/Duplication, 5 Genes
2009337
Ordering Recommendation

Most comprehensive test to determine the cause of a telangiectasia/AVM disorder.

Mnemonic
HHT PANEL
Methodology
Massively Parallel Sequencing/Exonic Oligonucleotide-based CGH Microarray
Performed
Varies
Reported
10-12 weeks
New York DOH Approval Status
Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.
Submit With Order
ARUP Consult®
Disease Topics
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 Statement C: The performance characteristics of this test were validated by ARUP Laboratories. The U.S. Food and Drug Administration (FDA) has not approved or cleared this test. However, FDA approval or clearance is currently not required for clinical use of this test. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions. ARUP is authorized under Clinical Laboratory Improvement Amendments (CLIA) and by all states to perform high-complexity testing. Counseling and informed consent are recommended for genetic testing. Consent forms are available online.

Note
CPT Code(s)
81405 x2 (ENG, SMAD4); 81406 x2 (ENG, SMAD4); 81479 x2
Components
Component Test Code*Component Chart NameLOINC
2009338HHT Panel Specimen
2009341HHT 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
  • 0051382 Hereditary Hemorrhagic Telangiectasia (ACVRL1 and ENG) Sequencing and Deletion/Duplication
  • 2001971 Juvenile Polyposis (SMAD4) Sequencing and Deletion/Duplication
  • 2007852 RASA1-Related Disorders (RASA1) Sequencing and Deletion/Duplication
  • 2010015 Telangiectasia Syndrome (BMP9/GDF2) Sequencing
  • ACVRL1/ALK1, BMP9/GDF2, ENG, RASA1, SMAD4
  • Osler-Weber-Rendu syndrome