FGFR1, FGFR2 and FGFR3 related craniosynostosis panel - The craniosynostosis syndromes are a group of disorders sharing the premature fusion of one or more sutures of the skull.  Often additional anomalies are associated.  There are seven craniosynostosis syndromes caused by mutations in three fibroblast growth factor receptor genes: FGFR1, FGFR2 and FGFR3.read more

Tests Available

Panel Genes: FGFR1, FGFR2, FGFR3
Sanger Sequencing
$645
Test Code: 1103
FGFR1 Exon 10, FGFR2 Exons 8 & 10 and FGFR3 Exons 7 & 10 only

Test Details

Technical Information
Panel Genes: 
FGFR1, FGFR2, FGFR3
Test Note: 
FGFR1 Exon 10, FGFR2 Exons 8 & 10 and FGFR3 Exons 7 & 10 only
Disease Groups: 
Craniosynostosis and Craniofacial Disorders
MIM: 
101200
123790
123500
612247
123150
602849
101600
Billing
Price: 
$645
CPT Codes: 
81479 x 1
81404 x 2
Ordering
SKU:
1103
Turnaround Time: 
Typically 1 to 2 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)
Shipping: 

Ship all specimen types at room temperature by overnight courier. Do not freeze.

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