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

Recommended test for symptomatic individuals who do not meet clinical criteria for HHT.

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

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.
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: For human genetic inheritable conditions and mutations. This test was developed and its performance characteristics determined by ARUP Laboratories. The U. S. Food and Drug Administration has not approved or cleared this test; however, FDA clearance or approval is not currently required for clinical use. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions.

Counseling and informed consent are recommended for genetic testing. Consent forms are available online.

Note
GENES TESTED: ACVRL1, ENG, EPHB4**, GDF2, RASA1, SMAD4
 
** Deletion/duplication detection is not available for this gene.
Hotline History
View Hotline History
CPT Code(s)
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
  • CM/AVM
  • JPS
  • juvenile polyposis syndrome
  • Osler-Weber-Rendu syndrome
  • Parkes Weber syndrome