Pfeiffer syndrome - 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 eight craniosynostosis disorders caused by mutations in three fibroblast growth factor receptor genes: FGFR1, FGFR2 and FGFR3. All are autosomal dominant. Penetrance varies with the specific craniosynostosis type. Many FGFR mutations are associated with advanced paternal age.

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Tests Available

Panel Genes: FGFR1, FGFR2
Sanger Sequencing
Option 1: FGFR1 Exon 10 and FGFR2 Exons 8 & 10 only
$545
Test Code: 1099
Sanger Sequencing
Option 2: Reflex to remaining FGFR2 exons
$978
Test Code: 1100

Test Details

Technical Information
Panel Genes: 
FGFR1, FGFR2
Disease Groups: 
Craniosynostosis and Craniofacial Disorders
MIM: 
101600
Billing
Price: 
$545
CPT Codes: 
81479 x 1
81404 x 1
Ordering
SKU:
1099
Test Option: 
FGFR1 Exon 10 and FGFR2 Exons 8 & 10 only
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.

Related Panels
Craniosynostosis NGS panel (25 genes)
NGS $1,495
Del Dup $990
Comp $1,870

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