0051265
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Achondroplasia ( FGFR3 ) 2 Mutations, Fetal

AD PCR FE
Example Reports
Negative
Positive

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Fetal Molecular Testing Patient History Form

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Informed Consent for Genetic Testing (Required for NY patients)

Ordering Recommendation

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

New York DOH Approval Status

This test is New York state approved.

Specimen Required

Patient Preparation
Collect

Amniotic fluid OR cultured amniocytes OR cultured CVS: Two T-25 flasks at 80 percent confluency.
AND maternal whole blood: Lavender (K2 or K3EDTA), pink (K2EDTA), or yellow (ACD solution A or B).

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.

Specimen Preparation

Amniotic fluid: Transport 10 mL amniotic fluid in a sterile container (min: 5 mL). OR cultured amniocytes OR cultured CVS: Fill flasks with culture media. Backup cultures must be retained at the client's institution until testing is complete.
AND maternal whole blood: transport 2 mL whole blood (min: 1 mL).

Storage/Transport Temperature

Preferred transport temp: Amniotic fluid, cultured amniocytes or cultured CVS: CRITICAL ROOM TEMPERATURE. Must be received within 2 days of shipment due to liability of cells. Maternal whole blood: Room temperature.

Unacceptable Conditions

Frozen specimens in glass collection tubes.

Remarks

Patient History Form is available on the ARUP Web site or by contacting ARUP Client Services.
Counseling and informed consent are recommended for genetic testing. Consent forms are linked above.
New York Clients: informed consent is required with submission.

Stability

Fetal Specimen: Room temperature: 2 days; Refrigerated: 2 days; Frozen: Unacceptable
Maternal whole blood: Room Temperature: 3 days; Refrigerated: 1 week; Frozen: Unacceptable

Methodology

Polymerase Chain Reaction (PCR) / Fluorescence Monitoring / Fragment Analysis

Performed

Varies

Reported

2-7 days
If culture is required, an additional 1 to 2 weeks is required for processing time.

Reference Interval

Refer to report

Interpretive Data

Refer to report

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
01/21/2025
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
0051505 Achondroplasia PCR Fetal Specimen 31208-2
3016852 Achondroplasia PCR, Fetal Interp
* 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