Spondyloepiphyseal dysplasia congenita; Spondyloepimetaphyseal dysplasia, Strudwick type; Osteoarthritis with mild chondrodysplasia - Spondyloepiphyseal dysplasia congenita (SEDC; MIM 183900), Spondyloepimetaphyseal dysplasia Strudwick type (SEMDSTWK; MIM 184250), Czech dysplasia (MIM 609162) and osteoarthritis with mild chondrodysplasia (OSCDP; MIM 604864)read more
Tests Available
By gene: COL2A1
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Next Generation Sequencing
Test Code: 1215
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Deletion / Duplication
Test Code: 1837
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NGS/Del Dup Comprehensive
Test Code: 1838
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Test Details
Technical Information
Genes:
COL2A1
Disease Groups:
Skeletal Dysplasias
MIM:
604864
Billing
CPT Codes:
81479 x 1
Ordering
SKU:
1215 Turnaround Time:
Typically 2 to 4 weeks from receipt of a sample in the laboratory. All cases involving ongoing pregnancies will be expedited.
Non-Prenatal Specimens:
- Whole blood: purple-top (EDTA) tube, minimum of 3 ml
- Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
- Fibroblasts: 2 confluent T-25 flasks
- Saliva: only samples collected in Oragene DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children are accepted
Prenatal Specimens:
- Cultured cells: 2 confluent T-25 flasks derived from amnio or CVS samples
- Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
Shipping:
Ship all specimen types at room temperature by overnight courier. Do not freeze.