0051266
print

Achondroplasia (FGFR3) 2 Mutations

AD PCR
Example Reports
Negative
Positive

Icon

Informed Consent for Genetic Testing (required for NY patients)

Ordering Recommendation

Confirm clinical or suspected diagnosis of achondroplasia.

Methodology

Polymerase Chain Reaction (PCR)/Fluorescence Monitoring

Performed

Varies

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

Transport 3 mL whole blood. (Min: 1 mL)

Storage/Transport Temperature

Refrigerated.

Unacceptable Conditions

Plasma or serum. Frozen specimens in glass collection tubes. Hemolyzed specimens. Heparinized specimen.

Remarks
Stability

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

Reference Interval

By report

Interpretive Data

Refer to report

Compliance Category

Laboratory Developed Test (LDT)

Note

Hotline History

N/A

CPT Codes

81401

Are you an ARUP Client? Click here for your pricing.

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