Osteoarthritis with mild chondrodysplasia | Connective Tissue Gene Tests

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

$900

Test Code: 1215

$900

Test Code: 1837

$1,100

Test Code: 1838

Related Panels

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Skeletal dysplasia core NGS panel (10 genes)	NGS $1,100 Del Dup $990 Comp $1,300
Skeletal dysplasia core & extended NGS panel (29 genes)	NGS $1,300 Del Dup $990 Comp $1,500
Stickler syndrome NGS panel (8 genes)	NGS $1,100 Del Dup $990 Comp $1,250

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: