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
$900
Test Code: 1074
|
Deletion / Duplication
$900
Test Code: 2437
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NGS/Del Dup Comprehensive
$1,100
Test Code: 2438
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Test Details
Technical Information
Genes:
TGFB1
Disease Groups:
Osteopetrosis and High Bone Density Disorders
MIM:
131300
Billing
Price:
$900
CPT Codes:
81479 x 1
Ordering
SKU:
1074 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: 4 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: 4 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.