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.

read more

Tests Available

Panel Genes: FGFR1, FGFR2
Sanger Sequencing
$545
Test Code: 1099
FGFR1 Exon 10 and FGFR2 Exons 8 & 10 only

Test Details

Technical Information
Panel Genes: 
FGFR1, FGFR2
Test Note: 
FGFR1 Exon 10 and FGFR2 Exons 8 & 10 only
Disease Groups: 
Craniosynostosis and Craniofacial Disorders
MIM: 
101600
Billing
Price: 
$545
CPT Codes: 
81479 x 1
81404 x 1
Ordering
SKU:
1099
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: a minimum of 3 µg (at a concentration of at least 30 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: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
Shipping: 

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

Related Panels
Craniosynostosis NGS panel (26 genes)
NGS $1,300
Del Dup $990
Comp $1,500

Search Tests

TIP: enter a partial disorder name or gene to widen your search