Noonan Syndrome, Fetal
Order Name
Noonan Syn Fetal
Test Number: 5194958
Revision Date 03/21/2023
Test Number: 5194958
Revision Date 03/21/2023
| Test Name | Methodology | LOINC Code |
|---|---|---|
|
Noonan Syndrome, Fetal
|
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. 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 | 14 - 21 days In some cases, additional time may be required for confirmatory or reflex tests. |
| Clinical Use | This test includes the following genes: BRAF, CBL, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, MRAS, NRAS, PPP1CB, PTPN11, RAF1, RASA2, RIT1, RRAS, SHOC2, SOS1, SOS2 and SPRED. |
| Performing Labcorp Test Code | 482299 |
| Notes | Labcorp Test Code: 482299 |
| Lab Section | Reference Lab |