Sickle Cell, Fetal Analysis
Order Name
Sickle Cell Fetal
Test Number: 5194951
Revision Date 07/17/2023
Test Number: 5194951
Revision Date 07/17/2023
| Test Name | Methodology | LOINC Code |
|---|---|---|
|
Sickle Cell, Fetal Analysis
|
Polymerase Chain Reaction |
| SPECIMEN REQUIREMENTS | ||||
|---|---|---|---|---|
| Specimen | Specimen Volume (min) | Specimen Type | Specimen Container | Transport Environment |
| Preferred | 4 mL (3 mL) | Amniotic Fluid | Sterile Screwtop Container | Room Temperature |
| Alternate 1 | See Instructions | See Instructions | See Instructions | Room Temperature |
| Instructions | Specimen Type: Amniotic fluid or chorionic villus sample (CVS) or cultured cells or cordblood. Direct amniotic fluid or CVS specimen may be submitted; additional culture fee may be applied. Specimen Volume: Amniotic fluid: 10 mL or CVS: 10 mg or amniotic fluid and CVS culture: one confluent T-25 flask or 4 mL cordblood. If amniotic fluid or CVS are cultured at another facility, please maintain back-up cultures. Mininum Volume: Amniotic fluid: 10 mL or CVS: 10 mg or amniotic fluid and CVS culture: one confluent T-25 flask or 3 mL cordblood Collection: Standard sterile techniques. Transfer aseptically to sterile tubes. Amniotic fluid: Discard first 2mL of fluid aspirated to avoid maternal cell contamination. Specimen Storage: Maintain specimen at room temperature. Do not freeze. **THIS TEST IS FOR FETAL TESTING ONLY** It is not intended for routine sickle cell screening. Labcorp clients with 8 digit client account numbers should call 800-345-4363 and Labcorp Genetics & Women's Health clients with 6 digit client /subclient account numbers should call 800-255-7357 to speak with a laboratory genetic coordinator before collecting specimens. In some circumstances, specimens from both parents and other family members may be required. All fetal specimens, including cordblood, must be accompanied by a maternal blood, PurFlock buccal swab kit or Oragene Dx 500 saliva kit for maternal cell contamination (MCC). A separate requisition should be submitted with the maternal specimen. |
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| GENERAL INFORMATION | |
|---|---|
| Expected TAT | 8 - 14 days If culture is needed, an additional 14-21 days may be required. |
| Clinical Use | Sickle cell analysis: HbS (c.20A>T, p.Glu7Val) and HbC (c.19G>A, p.Glu7Lys) pathogenic variants are identified by Sanger sequencing, capillary gel electrophoresis and fluorescence detection. Maternal cell contamination analysis (MCC): Analysis of short tandem repeat markers by multiplex fluorescent polymerase chain reaction (PCR) and capillary electrophoresis |
| Performing Labcorp Test Code | 482091 |
| Notes | Labcorp Test Code: 482091 |
| CPT Code(s) | 81361 |
| Lab Section | Reference Lab |