Order Connective Tissue Disorders Panel (14 Genes) Test
Connective tissue disorders are a genetically heterogeneous group of conditions which share overlapping genotypes and phenotypes consisting of Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms and dissections, Ehlers-Danlos type IV, arterial tortuosity, and others. Individuals with a connective tissue disorder may have variable phenotypes affecting the skeletal, cardiovascular, epidermis and joints, and ocular systems. The age of onset and rate of progression may vary even among family members. Read more about this test.
All samples must be accompanied with a completed requisition form. Please make sure any identifiers used on the specimen are provided on the paperwork. Consent page should be signed by a health care provider. Any incomplete or missing paperwork may delay the start of testing.
ACTA2, CBS, COL3A1, FBN1, FBN2, MED12 (Exon 22), MYH11, MYLK, SKI, SLC2A10, SMAD3, TGFβ2, TGFβR1, TGFβR2
- Next Generation Sequencing (copy number analysis included when data meets quality standards)
- Sanger Confirmation
- FBN1 Copy Number Analysis
7ml of whole blood (3–5ml for an infant) in a lavender top tube (K2EDTA or K3EDTA)
10 ug of DNA at a minimum concentration of 25 ng/ul (please provide DNA concentration)
The Laboratory for Molecular Medicine offers several billing options for our clients and their patients; however, we do not bill insurance companies and are unable to begin testing without accurate billing information.
For questions, please contact us at 617-768-8500 or by email.