Fibrochondrogenesis - Fibrochondrogenesis 1 (FBCG1; MIM 228520) and fibrochondrogenesis 2 (FBCG2; MIM 614524) are short limbed skeletal dysplasias that are usually, but not always lethal. The disorder is named for the disorganized cartilage growth plate in which chondrocytes resemble fibroblasts and there are regions of fibrous extracellular matrix.read more

Tests Available

By gene: COL11A2
Next Generation Sequencing
$900
Test Code: 1151
Deletion / Duplication
$900
Test Code: 1152
NGS/Del Dup Comprehensive
$1,100
Test Code: 1551

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Stickler syndrome NGS panel (8 genes)
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Test Details

Technical Information
Genes: 
COL11A2
Disease Groups: 
Skeletal Dysplasias
MIM: 
614524
Billing
Price: 
$900
CPT Codes: 
81479 x 1
Ordering
SKU:
1151
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: 
  1. Whole blood: purple-top (EDTA) tube, minimum of 3 ml
  2. Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 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: 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.

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