All Tests Spondyloepimetaphyseal dysplasia, Strudwick type (SEMD)
Spondyloepimetaphyseal dysplasia, Strudwick type (SEMD)
Spondyloepiphyseal dysplasia congenita; Spondyloepimetaphyseal dysplasia, Strudwick type; Osteoarthritis with mild chondrodysplasia
Spondyloepiphyseal dysplasia congenita (SEDc; MIM 183900), Spondyloepimetaphyseal dysplasia Strudwick (SEMD Strudwick; MIM 184250) and osteoarthritis with mild chondrodysplasia (MIM 604864) are disorders traced to defects in COL2A1. SEDc is a variable disorder but is evident at birth. Individuals have short trunks, and necks. Limbs are proximally foreshortened and barrel chest is present. The spine is involved. Myopia and retinal detachment may occur. SEMD Strudwick is indistinguishable from SEDc at birth. More pronounced metaphyseal involvement is evident by childhood. Individuals with osteoarthritis with mild chondrodysplasia have normal or near normal height with early onset osteoarthritis and mild epiphyseal dysplasia and spinal involvement.
| CPT Codes: | 83890 | 83898 | 83894 | 83904 | 83912 |
| 1 | 68 | 68 | 70 | 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 | |
