Loeys-Dietz Syndrome (TGFBR1 and TGFBR2) Sequencing
Ordering Recommendation

Confirm clinical diagnosis of Loeys-Dietz syndrome.

Polymerase Chain Reaction/Sequencing
14-21 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
Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B). 
Specimen Preparation
Transport 3 mL whole blood. (Min: 1 mL) 
Storage/Transport Temperature
Unacceptable Conditions
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable 
Reference Interval
Interpretive Data
Background Information for Loeys-Dietz Syndrome (TGFBR1 & TGFBR2) Sequencing:
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.
Pathogenic TGFBR1 and TGFBR2 gene mutations.
Clinical Sensitivity: 95 percent.
Bidirectional sequencing of the TGFBR1 and TGFBR2 genes coding regions and intron-exon boundaries.
Analytical Sensitivity and Specificity:
99 percent.
: Diagnostic errors can occur due to rare sequence variations. Regulatory region mutations, deep intronic mutations, and large deletion/duplications will not be detected.

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.

Component Test Code*Component Chart NameLOINC
2002706LDS FGS Specimen
2002707Loeys-Dietz Syndrome Sequencing
* 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.
  • LDS sequencing assay
  • TGBR1, TGBR2 sequencing assay