ELN-related Disorders: ELN Gene Sequencing

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Condition Description

Numerous genetic disorders, including connective tissue, cardiac, pulmonary, and seizure, are associated with pathogenic variants found in the ELN gene. This gene provides instructions for making proteins called tropoelastin. These proteins attach to one another and are processed to form a mature protein called elastin. Elastin is the major component of elastic fibers; slender bundles of proteins that provide strength and flexibility to connective tissue. Elastic fibers are found in the intricate lattice that forms in the spaces between cells, where they give structural support to organs and tissues such as the heart, skin, lungs, ligaments, and blood vessels.

  • GeneReviews.

Genes (1)


This test is indicated for:
  • Confirmation of a clinical diagnosis of an ELN-related disorder.





Analytical Sensitivity: ~99%.

Specimen Requirements


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


Type: Isolated DNA

Specimen Requirements:

In microtainer: 60 ug

Isolation using the QiagenTM Puregene kit for DNA extraction is recommended.


  • ELN-related Disorders: Deletion/Duplication Panel

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