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Connective Tissue Testing

Connective tissue is composed of proteins that provide structure and strength in the body. Heritable disorders of connective
tissue are caused by abnormal production, structure or processing of a protein in the connective tissue, such as collagen,
elastin or fibrillin. Because connective tissue is present throughout all organs of the body, heritable disorders of connective
tissue often involve multiple organ systems.

Challenges of Diagnosing Heritable Disorders of Connective Tissue
• Clinical features are highly variable, often non-specific
• The clinical phenotype may change with age. Milder presentations may be ‘subclinical’ or overlap with common features
seen in the general population
• The full phenotypic spectrum may not be characterized for rare and/or recently described disorders
• Clinical diagnostic criteria and tools may be lacking, dated or non-specific
• Phenotypic and genetic heterogeneity

Heritable Disorders of Connective Tissue Panel (49 genes)

ACTA2, ADAMTS2, ALDH18A1, ATP6V0A2, ATP7A, B3GALT6*, B4GALT7, CBS, CHST14, COL11A1,COL11A2,
COL1A1, COL1A2, COL2A1, COL3A1, COL5A1, COL5A2, COL9A1, COL9A2, DSE, EFEMP2, ELN, FBLN5, FBN1,
FBN2, FKBP14, FLNA, LTBP4, MAT2A, MED12, MFAP5, MYH11, MYLK, NOTCH1, PLOD1, PRDM5, PRKG1,
PYCR1, RIN2, SKI, SLC2A10, SLC39A13, SMAD3, SMAD4, TGFB2, TGFB3, TGFBR1, TGFBR2, ZNF469

Cardiovascular Musculoskeletal Skin Craniofacial/Eye Neurology
Aneurysms/dissections (non-aortic) Aortic aneurysm/dissection Craniofacial abnormalities Ocular complications, other Sensorineural hearing loss

Conditions Included on the Mitral valve prolapse Joint hypermobility Joint contractures Marfanoid habitus Abnormal scarring/skin Lens dislocation Retinal detachment Muscular hypotonia Intellectual disability
Heritable Disorders of
Connective Tissue Panel
Arterial Tortuosity syndrome • • • • • • •
Brittle Cornea syndrome • • • • • • •
Congenital Contractural Arachnodactyly • • • • • •
Cutis Laxas • • • • • • • •
Ehlers-Danlos syndrome, Arthrochalasia • • •
Ehlers-Danlos syndrome, Classical • • • • •
Ehlers-Danlos syndrome, Kyphoscoliotic • • • • • • •
Ehlers-Danlos syndrome, Vascular • • • • • •
Ehlers-Danlos syndromes, Other types • • • • • • • • • • •
Familial Thoracic Aortic Aneurysm/Dissection • •
Homocystinuria • • • • • •
Loeys-Dietz syndromes • • • • • •
Marfan syndrome • • • • • • • • • •
Occipital Horn syndrome • • • •
Shprintzen-Goldberg syndrome • • • • • • • • • •
Stickler syndrome • • • • • • •

*Deletion/Duplication analysis not performed for this gene
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