Spondyloepimetaphyseal dysplasia, Missouri type, metaphyseal anadysplasia 1 and metaphyseal anadysplasia 2 - Spondyloepimetaphyseal dysplasia, Missouri type (SEMD, Missouri type; MIM 602111) is an autosomal dominant disorder caused by missense mutations in the prodomain of matrix metalloproteinase 13 (MMP13).read more

Tests Available

By gene: MMP9
Sanger Sequencing
$950
Test Code: 1200
Deletion / Duplication
$680
Test Code: 1201
Sanger/Del Dup Comprehensive
$1,530
Test Code: 1586

Related Panels
Metaphyseal anadysplasia NGS panel (2 genes)
NGS $1,100
Del Dup $750
Comp $1,750

Test Details

Technical Information
Genes: 
MMP9
Disease Groups: 
Skeletal Dysplasias
MIM: 
613073
Billing
Price: 
$950
CPT Codes: 
81479 x 1
Ordering
SKU:
1200
Turnaround Time: 
Typically 1 to 2 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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