All Tests Ectopia lentis
Ectopia lentis
Ectopia lentis, isolated
Ectopia lentis, isolated (MIM 129600) is a dominantly inherited disorder caused by mutations in the FBN1 gene. The disorder is characterized by congenital lens dislocation. The lens may be dislocated in any direction. Ectopia lentis, isolated should be discriminated from the ectopia lentis associated with homocystinuria (MIM 236200) due to cystathionine beta-synthase deficiency. The latter disorder typically displays a downward dislocation of the lens. In some instances, identical FBN1 mutations have been described in both ectopia lentis, isolated and Marfan syndrome (MFS1; MIM 154700).
| CPT Codes: | 83890 | 83898 | 83894 | 83904 | 83912 |
| 1 | 58 | 58 | 63 | 1 | |
TaqMan quantitative real-time PCR assay for detection of deletions/duplications:
The test consists of sixty-five primer/probe sets designed to amplify a region of all 65 FBN1 exons. The method will detect large deletions/duplications involving one or more exons. Partial exon deletions/duplications may not be detected unless they are located within the amplified region of the exon.
| CPT Codes: | 83890 | 83898 | 83894 | 83904 | 83912 |
| 1 | 65 | NA | NA | 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 | |
