Neurofibromatosis Type 1 Prenatal Detection of Known Mutation - LG6115
| Sunquest Code: | XMISC | ||
| Epic Code: | LAB4909 | Epic Name: | Send Outs Misc Test |
| Test Includes: | Targeted detection of known NF1 mutation and maternal cell contamination (MCC) | ||
| Turnaround Time: | Specimens are sent to reference laboratory Mon-Thur before 1300; results are reported within 4-6 weeks. | ||
| Special Instructions: | A completed requisition form and phenotypic checklist must accompany each specimen. See Associated Links. | ||
| Associated Links: | |||
Collection Instructions
| Specimen: | See collection instructions. |
| Collection Instructions: | For Prenatal diagnosis send one of the following: 1) direct CVS, min. 10 mg pure villi, 2) direct amniotic fluid, min 10.0 mL , 3) 2 - T25 flasks of cultured CVS (70% confluent), 4) 2 - T25 flasks of cultured amniocytes (70% confluent). Include a 1-5 mL purple (EDTA) sample from mother for MCC studies. |
Processing and Shipping
| Shipping Instructions: | Ship at room temperature. Call 205-934-5562 or email shipment tracking number for package. |
| Test Performed at or Referral Lab | Lab Sendouts (University of Alabama at Birmingham (Dept of Genetics) Med Genomics) |
| Referral Lab number: | PT2 |
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