- 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
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.
|Component Test Code*||Component Chart Name||LOINC|
|2002698||LDS DELDUP Specimen|
|2002699||Loeys-Dietz Syn (TGFBR1, TGFBR2) Del Dup|
- LDS 1C deletion/duplication assay
- TGBR1, TGBR2 deletion/duplication assay