Spondyloepiphyseal dysplasia tarda, X-linked (SEDT) Print

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Gene
SEDL
MIM
313400
Clinical Description

Spondyloepiphyseal dysplasia tarda, X-linked

Spondyloepiphyseal dysplasia tarda, X-linked (SEDT; MIM 313400) is caused by mutations in the SEDL gene. Thus, it is distinct from COL2A1- related spondyloepiphyseal dysplasias. Onset is typically seen in males between the ages of 10-14 years. Patients have a short trunk, vertebral flattening with a characteristic abnormal accumulation of bone, mild epiphyseal dysplasia of the large joints, precocious arthritis, and ochronosis of intervertebral discs. Severe osteoarthritis may necessitate total hip arthroplasty before 40 years of age. Obligate heterozygous females may display X-ray changes, bone pain and arthritis.

Available Tests
The following test(s) are available for Spondyloepiphyseal dysplasia tarda, X-linked (SEDT)
DNA Sequencing
Price: $841
CPT Codes: 83890 83898 83894 83904 83912
  1 8 8 12 1
Deletion / Duplication Analysis - High-Density Targeted Array

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.

First Gene:
Price: $1,190
CPT Codes: 83890 83892 83894 88386 83912
  1 2 1 4 1
Additional Gene(s):
Price: $590
CPT Codes: 83890 83892 83894 88386 83912
  NA NA NA 4 1
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