Otospondylomegaepiphyseal dysplasia and Weissenbacher-Zweymuller syndrome - Otospondylomegaepiphyseal dysplasia (OSMED; MIM 215150) is an autosomal recessive disorder characterized by sensorineural hearing loss, enlarged epiphyses, disproportionate shortness of the limbs, and vertebral body abnormalities. Cleft palate, small mandible, mid-facial hypoplasia and small upturned nose are also common findings.read more

Tests Available

By gene: COL11A2
Next Generation Sequencing
$990
Test Code: 1377
Deletion / Duplication
$680
Test Code: 1378
NGS/Del Dup Comprehensive
$1,570
Test Code: 1687

Related Panels
Stickler syndrome NGS panel (7 genes)
NGS $1,370
Del Dup $990
Comp $2,210
Skeletal dysplasia core & extended NGS panel (29 genes)
NGS $1,840
Del Dup $1,300
Comp $2,990
Skeletal dysplasia extended NGS panel (19 genes)
NGS $1,490
Del Dup $1,150
Comp $2,490

Test Details

Technical Information
Genes: 
COL11A2
Disease Groups: 
Skeletal Dysplasias
MIM: 
277610
Billing
Price: 
$990
CPT Codes: 
81479 x 1
Ordering
SKU:
1377
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)
Shipping: 
Ship all specimen types at room temperature by overnight courier. Do not freeze.

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