COMP related disorders - Pseudoachondroplasia (PSACH; MIM 177170) and some cases of autosomal dominant multiple epiphyseal dysplasia (MED; MIM 132400) are caused by mutations in the COMP gene which codes for cartilage oligomeric matrix protein.

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Tests Available

By gene: COMP
Next Generation Sequencing
Test Code: 1280
Deletion / Duplication
Test Code: 2076
NGS/Del Dup Comprehensive
Test Code: 2077
Sanger Sequencing
Option 1: Exons 8 to 19 only
Test Code: 1281
Sanger Sequencing
Option 2: Reflex to remaining exons
Test Code: 1282

Test Details

Technical Information
Disease Groups: 
Skeletal Dysplasias
CPT Codes: 
81479 x 1
Turnaround Time: 
Typically 3 to 4 weeks from receipt of a sample in the laboratory. All cases involving ongoing pregnancies will be expedited.
Non-Prenatal Specimens: 
  1. Whole blood: purple-top (EDTA) tube, minimum of 3 ml
  2. Genomic DNA: minimum of 10 µg (at a concentration of at least 50 ng/µl)
  3. Fibroblasts: 4 confluent T-25 flasks
  4. Saliva: only samples collected in Oragene DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children are accepted
Prenatal Specimens: 
  1. Cultured cells: 4 confluent T-25 flasks derived from amnio or CVS samples
  2. Genomic DNA: minimum of 10 µg (at a concentration of at least 50 ng/µl)
Ship all specimen types at room temperature by overnight courier. Do not freeze.

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