Achondroplasia (FGFR3) 2 Mutations, Fetal

0051265
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Example Reports
Negative
Positive

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Informed Consent for Genetic Testing (required for NY patients)

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Fetal Molecular Testing Patient History Form

Ordering Recommendation

Confirm diagnosis in at-risk fetuses or those with ultrasonographic features consistent with achondroplasia.

Mnemonic

AD PCR FE

Methodology

Polymerase Chain Reaction/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

Fetal specimen: Amniotic fluid.
OR Cultured amniocytes: Two T-25 flasks at 80 percent confluency.
OR cultured CVS: Two T-25 flasks at 80 percent confluency.
If the client is unable to culture, order test Cytogenetics Grow and Send (ARUP test code 0040182) in addition to this test and ARUP will culture upon receipt (culturing fees will apply). If you have any questions, contact ARUP's Genetics Processing at 800-522-2787 ext. 3301.
AND maternal whole blood specimen: Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).

Specimen Preparation

Amniotic fluid: Transport 10 mL amniotic fluid in a sterile container. (Min: 5 mL).
Cultured amniocytes AND cultured CVS: Transport two T-25 flasks at 80 percent confluency filled with culture media. Backup cultures must be retained at the client's institution until testing is complete.
Maternal Whole Blood Specimen: Transport 3 mL whole blood. (Min: 1 mL)

Storage/Transport Temperature

Amniotic fluid, cultured amniocytes and cultured CVS: CRITICAL ROOM TEMPERATURE. Must be received within 48 hours of shipment due to lability of cells.
Maternal Whole Blood Specimen: Refrigerated.

Unacceptable Conditions

Frozen specimens in glass collection tubes.

Remarks

Please contact an ARUP genetic counselor at 800-242-2787 x2141 prior to sample submission. Patient History Form is available on the ARUP Web site or by contacting ARUP Client Services.

Stability

Amniotic fluid, cultured amniocytes and cultured CVS: Room Temperature: 48 hours; Refrigerated: Unacceptable; Frozen: Unacceptable
Maternal Whole Blood Specimen: Room Temperature: 72 hours; Refrigerated: 1 week; Frozen: 1 month

Reference Interval

By report

Interpretive Data

Refer to report

This test was developed and its performance characteristics determined by ARUP Laboratories. It has not been cleared or approved by the U.S. 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

View Hotline History

 

Hotline History

Date of Change
Test Name Change
Methodology
Performance/Reported Schedule
Specimen Requirements
Reference Interval
Interpretive Data
Note
CPT Code
Component Change
Other Interface Change
New Test
Inactive
11/14/2022
X
X
X
05/16/2022
X
X
09/07/2021
X
X
05/17/2021
X
N/A

CPT Codes

81401; 81265 Fetal Cell Contamination (FCC)

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Components

Component Test Code* Component Chart Name LOINC
0050548 Maternal Contamination Study Fetal Spec 59266-7
0050612 Maternal Contam Study, Maternal Spec 66746-9
0051267 Achondroplasia PCR 38413-1
0051505 Achondroplasia PCR Fetal 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, Fetal