Ordering Recommendation

Confirm clinical or suspected diagnosis of achondroplasia.

Mnemonic

AD PCR

Methodology

Polymerase Chain Reaction/Fluorescence Resonance Energy Transfer

Performed

Mon, Thu

Reported

2-7 days

New York DOH Approval Status

This test is New York DOH approved.

Specimen Required

Patient Preparation
Collect

Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).

Specimen Preparation

Do not freeze. Transport 3 mL whole blood. (Min: 1 mL)

Storage/Transport Temperature

Refrigerated.

Unacceptable Conditions

Serum. Frozen specimens. Hemolyzed specimens.

Remarks
Stability

Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable

Reference Interval

By report

Interpretive Data

Background information for Achondroplasia (FGFR3) 2 Mutations:
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. Diagnostic errors can occur due to rare sequence variations.

This test was developed and its performance characteristics determined by ARUP Laboratories. It has not been cleared or approved by the US Food and Drug Administration. This test was performed in a CLIA certified laboratory and is intended for clinical purposes.

Counseling and informed consent are recommended for genetic testing. Consent forms are available online.

Compliance Category

Laboratory Developed Test (LDT)

Note

Hotline History

N/A

CPT Codes

81401

Components

Component Test Code* Component Chart Name LOINC
0051267 Achondroplasia PCR 38413-1
2001290 Achondroplasia PCR Specimen 31208-2
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.

Aliases

Achondroplasia (FGFR3) 2 Mutations