#ExistInterpData>Background Information for Loeys-Dietz Syndrome (TGFBR1 & TGFBR2) Sequencing and 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: 95 percent.
Methodology: Bidirectional sequencing of the TGFBR1 and TGFBR2 coding regions and intron-exon boundaries. Multiplex ligation-dependent probe amplification (MLPA) of the entire TGFBR1 and TGFBR2 coding regions.
Analytical Sensitivity and Specificity of Sequencing: 99 percent.
Analytical Specificity of MLPA: 99 percent.
Limitations: Rare diagnostic errors can occur due to primer or probe site mutations. Regulatory region mutations and deep intronic mutations will not be detected. Deletion/duplication breakpoints will not be determined.
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
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