ARUP's Laboratory Test Directory

Achondroplasia (FGFR3) 2 Mutations, Fetal : 0051265
[ image for: Patient History for Fetal Molecular Testing]
Patient History for Fetal Molecular Testing
  


Mnemonic: AD PCR FE

Methodology: Polymerase Chain Reaction/Fluorescent Resonance Energy Transfer
Performed: Mon, Thu
Reported: 2-7 days
Specimen Required: Collect: and Transport: Cultured cells: Two T-25 flasks at 80% confluent of cultured amniocytes. Fill flasks with culture media to ship at 20-25°C. Backup cultures must be retained at the client's institution until testing is complete. If the client is unable to culture amniocytes, this can be arranged by contacting ARUP Client Services at (800) 522-2787.
Amniotic fluid: 10 mL unspun fluid at 20-25°C. (Min: 5 mL)
Maternal sample: One 3 mL whole blood, lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B) at 20-25°C.

Storage/Transport Temperature:

Remarks: Fetal specimens are CRITICAL AMBIENT and must be received within 48 hours of shipment due to liability of cells. Maternal specimen is recommended for proper testing interpretation. Order Maternal Cell (MCC MAT) (0050608).
Patient History Form is available on the ARUP Web site or by contacting ARUP Client Services.

Stability (collection to initiation of testing): Fetal: Ambient: 2 days; Refrigerated: Unacceptable; Frozen: Unacceptable
Maternal: Ambient: 3 days; Refrigerated: 1 week; Frozen: Unacceptable
Reference Interval:
By report
Interpretive Data: Background information for Achondroplasia (FGFR3) 2 Mutations, Fetal:
Characteristics: Short stature with disproportionately short arms and legs, a large head, usually normal life span and intelligence; increased risk for death in
infancy from compression of spinal cord and/or upper airway obstruction.
Incidence: 1:25,000
Inheritance: Autosomal dominant; 80 percent arise from de novo mutations.
Penetrance: 100 percent
Cause: Pathogenic FGFR3 gene mutation
Clinical Sensitivity: Two mutations, c.1138G>A and c.1138G>C, in the FGFR3 gene account for greater than 99 percent of cases.
Methodology: PCR and fluorescent hybridization probes.
Analytical Sensitivity and Specificity: Greater than 99 percent
Limitations: Mutations other than c.1138G>A and c.1138G>C will not be detected.

For quality assurance purposes, ARUP Laboratories will provide a confirmation of the above result at no charge. Following delivery, please collect a cord blood sample from the infant in a lavender (EDTA) or yellow (ACD Solution A or B) top tube and transport 1mL cord blood at 2-8 °C. Please specify on the test request form that this is a confirmatory study to be performed at no charge. Please provide the mother's name for specimen identification purposes.

This test is performed pursuant to an agreement with Roche Molecular Systems, Inc.



Counseling and informed consent are recommended for genetic testing. Consent forms are available online at www.aruplab.com.

Please refer to Statement C in the Compliance Statements section in the front of the Laboratory Test Directory.
CPT Code(s): 83891 Isolation; 83898 Amplification; 83896 x2 Nucleic acid probes; 83912 Interpretation and report. FCC: 83900 Multiplex amplification; 83901 x14 Additional amplification; 83909 Capillary electrophoresis. MCC MAT (0050608): 83891 Isolation; 83900 Multiplex amplification; 83901 x14 Additional amplification; 83909 Capillary electrophoresis, 83912 Interpretation and report.
 
 

 

 

 
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