Hereditary Hemorrhagic Telangiectasia (ACVRL1 and ENG) Deletion/Duplication
0051348
Ordering Recommendation
This is a second tier test and REQUIRES PERMISSION fromARUPs Genetic Counselor (800-242-2787, x2141) before ordering. Preferred initial test is the sequencing and deletion/duplication test.
Submit With Order
Mnemonic
HHT DELDUP
Methodology
Polymerase Chain Reaction/Multiplex Ligation-dependent Probe Amplification
Performed
Sun
Reported
Within 14 days
New York DOH Approval Status
This test is New York DOH approved.
Specimen Required
Patient Preparation
 
Collect
Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).  
Specimen Preparation
Transport 3 mL whole blood. (Min: 2 mL)  
Storage/Transport Temperature
Refrigerated.  
Unacceptable Conditions
 
Remarks
 
Stability
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable  
Reference Interval
By report
Interpretive Data
Background Information for Telangiectasia, Hereditary Hemorrhagic (ACVRL1 or ENG) Deletion/Duplication
Characteristics:
Recurrent nosebleeds, telangiectases (mouth, face, hands, GI tract), arteriovenous malformations (lung, brain, liver, spine).
Incidence:
1:5,000-10,000
Inheritance:
Autosomal dominant.
Penetrance:
Approaches 100 percent by age 40.
Cause:
Mutations in endoglin (ENG), the activin A receptor type II-like 1 (ACVRL1 or ALK1), SMAD4 and other unidentified gene(s).
Clinical Sensitivity:
Approximately 10 percent of HHT is caused by large deletions or duplications in either the ACVRL1 or ENG genes.
Methodology:
Multiplex Ligation-dependent Probe Amplification (MLPA) to detect large ENG and ACVRL1 deletions/duplications; oligonucleotide probes cover all ENG and ACVRL1 coding exons.
Analytical Sensitivity:
90 pecent
Analytical Specificity:
98 percent
Limitations:
Diagnostic errors can occur due to rare sequence variations. Deletion/duplication breakpoints cannot be determined. Single base pair substitutions and small deletion/duplication mutations will not be detected.



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)
81405 (ENG), 81479
Components
Component Test Code*Component Chart Name
0051347HHT ENG
0051349HHT ACVRL1
0051387HHT Deletion/Duplication Interpretation
2001354HHT DELDUP Specimen
* 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.
Cross References
  • ACVRL1 and ENG Deletion/Duplication
  • HHT (Hereditary Hemorrhagic Telangiectasia (ACVRL1 and ENG) Deletion/Duplication)
  • HHT duplication/deletion assay