Connective Tissue Disorders: Deletion/Duplication Panel

Condition Description

Connective tissues provide a framework and structural support for the body, protect organs, connect body tissues, and store energy. Connective tissue disorders are a heterogeneous group of more than 200 conditions that often involve the joints, muscles, and skin. Heritable connective tissue disorders include both soft tissue disorders, characterized by excessive skin laxity, joint hypermobility, and easy bruising, as well as skeletal dysplasias that affect bone development.

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.

Genes (29)

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This test is indicated for:
  • Confirmation of a clinical diagnosis of connective tissue disorder.


Deletion/Duplication Analysis: DNA isolated from peripheral blood is hybridized to a CGH array to detect deletions and duplications. The targeted CGH array has overlapping probes which cover the entire genomic region.


Deletion/Duplication Analysis: Detection is limited to duplications and deletions. The CGH array will not detect point or intronic mutations. Results of molecular analysis must be interpreted in the context of the patient\'s clinical and/or biochemical phenotype.

Specimen Requirements

Listed below are EGL's preferred sample criteria. For any questions, please call 470.378.2200 and ask to speak with a laboratory genetic counselor (
Submit only 1 of the following specimen types
Whole Blood (EDTA)

EDTA (Purple Top)
Infants and Young Children (<2 years of age): 2-3 ml
Children > 2 years of age to 10 years old: 3-5 ml
Older Children & Adults: 5-10 ml
Autopsy: 2-3 ml unclotted cord or cardiac blood
Collection and Shipping
Ship sample at room temperature for receipt at EGL within 72 hours of collection. Do not freeze.
DNA, Isolated

Isolation using the Perkin Elmer™Chemagen™ Chemagen™ Automated Extraction method or Qiagen™ Puregene kit for DNA extraction is recommended.
Collection and Shipping
Refrigerate until time of shipment in 100 ng/µL in TE buffer. Ship sample at room temperature with overnight delivery.
  • Connective Tissue Disorders: Sequencing Panel

How to Order

Requisition Forms