Confirm clinical diagnosis of Loeys-Dietz syndrome.
Polymerase Chain Reaction/Sequencing
Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).
Transport 3 mL whole blood. (Min: 1 mL)
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
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.
Cause: Pathogenic TGFBR1 and TGFBR2 gene mutations.
Clinical Sensitivity: 95 percent.
Methodology: Bidirectional sequencing of the TGFBR1 and TGFBR2 genes coding regions and intron-exon boundaries.
Analytical Sensitivity and Specificity: 99 percent.
Limitations: Diagnostic errors can occur due to rare sequence variations. Regulatory region mutations, deep intronic mutations, and large deletion/duplications will not be detected.
This test was developed and its performance characteristics determined by ARUP Laboratories. It has not been cleared or approved by the US Food and Drug Administration. This test was performed in a CLIA certified laboratory and is intended for clinical purposes.
Counseling and informed consent are recommended for genetic testing. Consent forms are available online.
Laboratory Developed Test (LDT)
|Component Test Code*||Component Chart Name||LOINC|
|2002706||LDS FGS Specimen|
|2002707||Loeys-Dietz Syndrome Sequencing|
- LDS sequencing assay
- TGBR1, TGBR2 sequencing assay