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Achondroplasia ( FGFR3 ) 2 Mutations, Fetal
Ordering Recommendation
Confirm diagnosis in at-risk fetuses or those with ultrasonographic features consistent with achondroplasia.
Maternal cell contamination (MCC) analysis is required and performed at no additional charge. Order Maternal Cell Contamination, Maternal Specimen (0050608) on a maternal blood specimen.
For guidance on ordering maternal cell contamination studies, please refer to Maternal Cell Contamination (MCC) Analysis Guide.
New York DOH Approval Status
Specimen Required
Fetal Specimen: Amniotic fluid OR cultured amniocytes OR cultured chorionic villus sampling (CVS).
Maternal Specimen: Refer to Maternal Cell Contamination, Maternal Specimen (0050608) for maternal specimen requirements.
Transport: 10 mL amniotic fluid (min: 5 mL) OR
Two T-25 flasks of 80% confluent cultured amniocytes OR
Two T-25 flasks of 80% confluent cultured chorionic villus sampling (CVS).
If submitting uncultured (direct) amniotic fluid or (direct) CVS and testing is desired on a cultured specimen, add Cell Culture for Genetic Testing (3020627). If transporting flasks, the client is responsible for maintaining backup cultures at the client institution. If ARUP receives cultured fetal cells below minimum confluence, Cell Culture for Genetic Testing (3020627) will be added by ARUP.
Preferred transport: Room temperature.
Preferred shipment: Within two days of collection or confluence.
Frozen specimens.
Counseling and informed consent are recommended for genetic testing. Consent forms are linked above.
New York Clients: Informed consent is required with submission.
Room temperature: 2 days; Refrigerated: 2 days; 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
Laboratory Developed Test (LDT)
Note
Hotline History
Hotline History
CPT Codes
81401; 81265 Fetal Cell Contamination (FCC)
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 |
