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Test Code Cranio UM Craniosynostosis Common Mutations Panel

Important Note

 

This panel tests for mutations in FGFR1 Exon 10, FGFR2 Exons 8 & 10, FGFR3 Exons 7 & 10 and TWIST1 only

Clinical System Name

Craniodysmorphology Common Mutations Panel

Description

The tests analyzes FGFR1 Exon 10, FGFR2 Exons 8 & 10, FGFR3 Exons 7 & 10 and TWIST1 only

 

Sample Requirements

Specimen: Whole Blood

Container(s): Lavender/EDTA Tube

Preferred Vol: 5ml

Minimum Vol:  3ml

 

Specimen: DNA

Container(s): Sterile plastic tube

Preferred Vol:

Minimum Vol:  10 µg (at a concentration of at least 50 ng/µl)

 

Saliva: only samples collected in Oragene DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children are accepted

Processing Instructions

Reject due to: Serum, Frozen samples, Hemolyzed samples or Clotted samples

Spin: N

Aliquot: N

Temp: 2-6 C

Storage location: Do not spin. Affix large Cerner labels to tubes and place inrefrigerator send-outs rack.  Store extra labels in the clean plastic box attached to CPS refrigerator.  Alert Send-outs team.

 

 

Off-site collection:

Stability

Specimen Type Temperature Time
Whole Blood Room temp <7 days
  Refrigerated 2 wks
  Frozen N

 

Availability

STAT Performed TAT
N   2-3  wks

 

Department

Connective Tissue Gene Tests
6575 Snowdrift Road, Suite 106
Allentown, PA 18106 USA


Phone: (484) 244-2900

Reference Range

Interpretive report provided.
 

Methodology

Method: Sanger Sequencing

Analytical Volume:

Limitations:

Clinical Utility

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. They include Apert syndrome (MIM 101200), Beare-Stevenson cutis gyrata syndrome (BSTVS; MIM 123790), Crouzon syndrome (MIM 123500), Crouzon syndrome with acanthosis nigricans (CAN; MIM 612247), Jackson-Weiss syndrome (JWS; MIM123150), Muenke Syndrome (MNKES; MIM 602849) and Pfeiffer syndrome (MIM 101600). All are autosomal dominant. Penetrance varies with the specific craniosynostosis type. Many FGFR mutations are associated with advanced paternal age. Craniosynostosis, type 1 (CRS1; MIM 123100) is an autosomal dominant disorder caused by mutations in the TWIST1 gene. TWIST1 encodes a helix-loop-helix transcription factor (Twist-related protein 1) whose downstream targets include FGFRs, RUNX2 and osteoblast marker genes. Craniosynostosis without additional findings is the defining feature of CRS1. Intelligence is reported to be normal and the skull is reported to have a beaten copper appearance. Penetrance is apparently not complete as some carriers of TWIST1 mutations have been reported to be unaffected. Mutations in the TWIST1 gene also cause Saethre-Chotzen syndrome (SCS; MIM 101400) and Robinow-Sorauf syndrome (MIM 180750).

 

 

Conditions included in this panel are: 

Apert, Crouzon, Pfeiffer, Muenke, and Saethre-Chotzen Syndromes

 

GeneReviews: FGFR-related craniosynostosis syndromes

 

GeneReviews: Saethre-Chotzen syndrome

Send Out Instructions

 

Reference Test Name: FGFR1, FGFR2, FGFR3 & TWIST1 related craniosynostosis panel
Reference Test Number: 1104
Instructions:

Ship all specimen types at room temperature by overnight courier. Do not freeze. Please do NOT send specimens for weekend or U.S. holiday delivery.