Sign in →

Test Code MUENKE DNA Muenke Syndrome DNA Evaluation

Important Note

Test is for (FGFR3 Exon 7) for Muenke Syndrome ONLY. If "FGFR3" is ordered, physician MUST specify if they want achondroplasia, hypochondroplasia, or Muenke Syndrome.

Clinical System Name

Muenke Syndrome DNA evalutaion (FGFR3 Exon 7 P250R variant 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:Process sample immediately.  Do not spin. Affix large Cerner labels to tubes and place in refrigerator send-outs rack.  Samples may be refrigerated if shipment is delayed. 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   1 - 2  wks

 

Performing Laboratory

Connective Tissue Gene Tests (CTGT)

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: Detection of a P250R (c.749C>G) mutation by sanger sequencing.

Analytical Volume:

Limitations:

Clinical Utility

Muenke syndrome (MNKES; MIM 602849) is caused by a specific FGFR3 mutation, Pro250Arg.  The phenotypic presentation in Muenke syndrome is variable and patients may be misdiagnosed with another craniosynostosis syndrome.  Clinical findings include unicoronal or bicoronal craniosynostosis, midface hypoplasia, downslanting palpebral fissures and ptosis. Unicoronal synostosis is more frequent in males.  Bone abnormalities of the hands and feet may occur. Some carriers of the FGFR3 mutation do not have craniosynostosis, but may only have macrocephaly or even normal sized heads. Sensorineural hearing loss is seen in about one-third of the patients. Mild mental retardation can occur. Intrafamilial variation is great. The mutation rate is similar to that observed with achondroplasia, and the prevelance is estimated to be 1:30,000. Penetrance is incomplete.

Send Out Instructions

 

Reference Test Name: Muenke Syndrome (MNKES)
Reference Test Number: 1098
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.  CTGT accepts shipments only on regular business days.