Hereditary Hemorrhagic Telangiectasia (HHT) Sequencing, 5 Genes
2009342
Ordering Recommendation
Appropriate test to confirm a clinical diagnosis of a HHT. Consider in particular when a telangiectasia/AVM syndrome is suspected, but symptoms are not classic for HHT.
Mnemonic
HHT SEQ
Methodology
Massive Parallel Sequencing
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
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.



Counseling and informed consent are recommended for genetic testing. Consent forms are available online at www.aruplab.com.

See Compliance Statement C: www.aruplab.com/CS  
Note
 
CPT Code(s)
81406 x2 (ENG, SMAD4); 81479
Components
Component Test Code*Component Chart Name
2009343HHT Sequencing Specimen
2009344HHT Sequencing 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