All Tests Ectopia lentis, isolated, autosomal recessive
Ectopia lentis, isolated, autosomal recessive
Ectopia lentis, isolated
Isolated ectopia lentis is a genetically heterogenous disorder characterized by dislocation of the lenses in any direction. Inheritance may be autosomal dominant or autosomal recessive. Autosomal dominant cases are caused by mutations in the FBN1 gene (MIM 129600) and many autosomal recessive cases are caused by mutations in the ADAMTSL4 gene (MIM 225100). Isolated ectopia lentis should be discriminated from the ectopia lentis associated with homocystinuria (MIM 236200) caused by cystathionine beta-synthase deficiency. Individuals with homocystinuria typically display a downward dislocation of the lenses. Individuals with isolated ectopia lentis should also be distinguished from patients with Marfan syndrome (MIM 154700). Patients with Marfan syndrome typically have additional systemic features involving the cardiovascular and skeletal systems. In some instances, identical FBN1 mutations have been described in patients with isolated autosomal dominant ectopia lentis and Marfan syndrome. Lens dislocation may also be a feature of autosomal dominant (MIM 608328) or autosomal recessive (MIM 277600) Weill-Marchesani syndrome.
| CPT Codes: | 83890 | 83898 | 83894 | 83904 | 83912 |
| 1 | 23 | 23 | 27 | 1 | |
Explanation of pricing:
The First Gene price and CPT codes below are for the first gene tested by HDT Array on a particular specimen. The Additional Gene(s) price and CPT codes are for any subsequent gene(s) tested by HDT Array on the same specimen.
| CPT Codes: | 83890 | 83892 | 83894 | 88386 | 83912 |
| 1 | 2 | 1 | 4 | 1 | |
| CPT Codes: | 83890 | 83892 | 83894 | 88386 | 83912 |
| NA | NA | NA | 4 | 1 | |
