Filamin B related disorders - Filamin B (FLNB) is a protein suspected to play a role in vertebral segmentation, joint formation and endochondral ossification.

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Tests Available

By gene: FLNB
Next Generation Sequencing
Test Code: 1048
Deletion / Duplication
Test Code: 2390
NGS/Del Dup Comprehensive
Test Code: 2391
Sanger Sequencing
Option 1: Exons 2, 3, 4, 27, 28 and 29 only
Test Code: 1049
Sanger Sequencing
Option 2: Reflex to remaining exons
Test Code: 1050

Related Panels
Skeletal dysplasia extended NGS panel (19 genes)
NGS $1,490
Del Dup $1,150
Comp $2,490
Skeletal dysplasia core & extended NGS panel (29 genes)
NGS $1,840
Del Dup $1,300
Comp $2,990

Test Details

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

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