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Loeys-Dietz Syndrome (TGBR1 & TGBR2) Deletion/Duplication (INACTIVE as of 05/19/14: Refer to 2002705)
2002697
Ordering Recommendation
Mnemonic
LDS DELDUP
Methodology
Polymerase Chain Reaction/Multiplex Ligation-dependent Probe Amplification
Performed
Varies
Reported
Within 14 days
New York DOH Approval Status
Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.
ARUP Consult®
Disease Topics
Specimen Required
Patient Preparation
 
Collect
Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B). 
Specimen Preparation
Transport 3 mL whole blood. (Min: 1 mL) 
Storage/Transport Temperature
Refrigerated. 
Unacceptable Conditions
 
Remarks
 
Stability
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable 
Reference Interval
Interpretive Data
Background Information for Loeys-Dietz Syndrome (TGFBR1 & TGFBR2) Deletion/Duplication:
Characteristics of Loeys-Dietz Syndrome (LDS)
: Vascular-thoracic findings (thoracic, cerebral and abdominal arterial aneurysms and/or dissections), skeletal abnormalities (scoliosis, arachnodactyly, talipes equinovarus, joint laxity, pectus excavatum and carinatum), unusual craniofacial features (hypertelorism, craniosynostosis and cleft palate/bifid uvula) and cutaneous findings (translucent velvety skin, widened poorly-formed scars and easy bruising).
Incidence: Unknown, but rare, and seen in all ethnicities.
Inheritance: Autosomal dominant; 75 percent of mutations are de novo.
Penetrance: 99 percent.
Cause:
Pathogenic TGFBR1 and TGFBR2 gene mutations.
Clinical Sensitivity: Unknown.
Methodology:
Multiplex ligation-dependent probe amplification (MLPA) of the entire TGFBR1 and TGFBR2 coding regions.
Analytical Specificity:
99 percent.
Limitations
: Diagnostic errors can occur due to rare sequence variations. Single base pair substitutions, small deletions/duplications, regulatory region mutations and deep intronic mutations will not be detected. Deletion/duplication breakpoints will not be determined.

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)
81479
Components
Component Test Code*Component Chart NameLOINC
2002698LDS DELDUP Specimen
2002699Loeys-Dietz Syn (TGFBR1, TGFBR2) Del Dup
* 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
  • LDS 1C deletion/duplication assay
  • TGBR1, TGBR2 deletion/duplication assay