Camurati-Engelmann disease (CED; MIM 131300) is an autosomal dominant disorder characterized by a waddling gait, leg pain, easy fatigability and reduced muscle mass. It is a progressive, sclerosing bone dysplasia displaying endosteal and periosteal thickening of the diaphyses of the long bones resulting in cortical thickening and narrowing of the medullary cavity.read more

Tests Available

By gene: TGFB1
Next Generation Sequencing
$990
Test Code: 1074
Deletion / Duplication
$680
Test Code: 2437
NGS/Del Dup Comprehensive
$1,570
Test Code: 2438

Related Panels
Osteopetrosis and Dense bone dysplasia NGS panel (28 genes)
NGS $1,990
Del Dup $1,300
Comp $3,140
Dense bone dysplasia NGS panel (14 genes)
NGS $1,370
Del Dup $1,150
Comp $2,370

Test Details

Technical Information
Genes: 
TGFB1
Disease Groups: 
Osteopetrosis and High Bone Density Disorders
MIM: 
131300
Billing
Price: 
$990
CPT Codes: 
81479 x 1
Ordering
SKU:
1074
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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