Number of Panel Genes:
8
Multiple epiphyseal dysplasia (MED) is a clinically and genetically heterogeneous chondrodysplasia with either autosomal dominant or recessive inheritance. The phenotypic spectrum ranges from mild to severe. Patients usually present with joint pain and stiffness, waddling gait and/or mild short stature in childhood. Some patients, however, remain asymptomatic until adult age and present with early-onset osteoarthritis of the large weight-bearing joints.read more
Tests Available
8 Panel Genes: CANT1, COL2A1, COL9A1, COL9A2, COL9A3, COMP, MATN3, SLC26A2
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Next Generation Sequencing
$1,100
Test Code: 5094
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Deletion / Duplication
$990
Test Code: 5095
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NGS/Del Dup Comprehensive
$1,300
Test Code: 5096
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Test Details
Technical Information
Panel Genes:
CANT1, COL2A1, COL9A1, COL9A2, COL9A3, COMP, MATN3, SLC26A2
Disease Groups:
Skeletal Dysplasias
MIM:
617719
608805
150600
604864
614135
600204
600969
132400
607078
226900
Billing
CPT Codes:
81479 x 1
Ordering
SKU:
5094 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.
