Number of Panel Genes: 

Frontometaphyseal dysplasia (FMD) is a progressive sclerosing skeletal dysplasia characterized by supraorbital hyperostosis, abnormalities of the tubular bones including an Erlenmeyer-flask appearance of the femur and tibia, increased diaphyseal bone density, and joint contractures. Patients may have mitral valve prolapse, atrial and ventricular septal defects, vascular aneurysms, subglottic tracheal narrowing and genitourinary anomalies including hydronephrosis and more

Tests Available

3 Panel Genes: FLNA, MAP3K7, TAB2
Next Generation Sequencing
Test Code: 5212
Deletion / Duplication
Test Code: 5213
Del / Dup not available for FLNA
NGS/Del Dup Comprehensive
Test Code: 5214
Del / Dup not available for FLNA

Test Details

Technical Information
Panel Genes: 
Disease Groups: 
Skeletal Dysplasias
CPT Codes: 
81479 x 3
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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