Ectopia Lentis 2 (ADAMTSL4) Targeted Testing

Short Name: ADAMTSL4 Targeted

Ectopia lentis 2 is an autosomal recessive form of ectopia lentis and is caused by a pathogenic variant in the ADAMTSL4 gene. The disorder is characterized by abnormal stretching of the zonular fibers. This abnormal stretching leads to lens dislocation and results in acute or chronic visual impairment. The c.767_786del20 (p.Gln256Profs) variant has been identified in the Amish populations and is specifically analyzed by this targeted test.

CPT Code: 81403
Turn-Around Time: 1-2 weeks
OMIM: 225100
MedGen: 762100