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 more

Tests Available

By gene: COL11A1
Next Generation Sequencing
Test Code: 1149
Deletion / Duplication
Test Code: 1150
NGS/Del Dup Comprehensive
Test Code: 1550

Test Details

Technical Information
Disease Groups: 
Skeletal Dysplasias
CPT Codes: 
81479 x 1
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: 2 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: 2 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)
Ship all specimen types at room temperature by overnight courier. Do not freeze.

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