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
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Next Generation Sequencing
$900
Test Code: 1259
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Deletion / Duplication
$900
Test Code: 1260
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NGS/Del Dup Comprehensive
$1,100
Test Code: 1625
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Test Details
Technical Information
Genes:
COL11A2
Disease Groups:
Skeletal Dysplasias
MIM:
215150
Billing
CPT Codes:
81479 x 1
Ordering
SKU:
1259 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.