All Tests Otospondylomegaepiphyseal dysplasia (OSMED)
Otospondylomegaepiphyseal dysplasia (OSMED)
Otospondylomegaepiphyseal dysplasia and Weissenbacher-Zweymuller syndrome
Otospondylomegaepiphyseal dysplasia (OSMED; MIM 215150) is an autosomal recessive disorder characterized by sensorineural hearing loss, enlarged epiphyses, disproportionate shortness of the limbs, and vertebral body abnormalities. Cleft palate, small mandible, mid-facial hypoplasia and small upturned nose are also common findings. OSMED is typically caused by homozygous or compound heterozygous loss-of-function mutations in COL11A2.
Weissenbacher-Zweymuller syndrome (WZS; MIM 277610) shares the same clinical features as OSMED, but it is milder. WZS can also be caused by mutations in COL11A2.
| CPT Codes: | 83890 | 83898 | 83894 | 83904 | 83912 |
| 1 | 70 | 70 | 76 | 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 | |
