Diagnosis of heritable connective tissue disorders may be challenging due to extensive clinical variability, phenotypic overlap, or atypical presentation. However, making a specific diagnosis is important given that some of these disorders feature life-threatening complications, such as aortic root rupture, that require careful medical surveillance and monitoring. In addition, treatment options are available for some connective tissue disease.
- Bateman et al. (2009), Nat Rev Genet. 10:173-183.
- Confirmation of a clinical diagnosis of connective tissue disorder.
Analytical Sensitivity: ~99%.
Submit only 1 of the following specimen types
Type: Whole Blood
Specimen Requirements:In EDTA (purple top) tube:
Infants (<2 years): 2-3 ml
Children (>2 years): 3-5 ml
Older Children & Adults: 5-10 ml
Specimen Collection and Shipping: Ship sample at room temperature with overnight delivery.
Type: Isolated DNA
Specimen Requirements:In microtainer: 60 ug
Isolation using the QiagenTM Puregene kit for DNA extraction is recommended.
Specimen Collection and Shipping: Refrigerate until time of shipment in 100 ng/ul of TE buffer. Ship sample at room temperature with overnight delivery.
- Connective Tissue Disorders: Deletion/Duplication Panel