NF1, Legius Syndrome, and RASopathies
Testing Options
Blood-Based Testing
- Next-Generation Sequencing and Deletion/Duplication Analysis of NF1 Only (NF1-NG)
- Next-Generation Sequencing and Deletion/Duplication Analysis of NF1 and SPRED1 (NFSP-NG)
- Non-NF1 RASopathy Panel by Next-Generation Sequencing and Deletion/Duplication Analysis of LZTR1 and SPRED1 (NNP-NG)
- Expanded NF1-RASopathy Panel by Next-Generation Sequencing and Deletion/Duplication Analysis of LZTR1, NF1, and SPRED1 (RAS-NG)
- Peripheral Nerve Sheath Tumor Panel by Next-Generation Sequencing (PNT-NG)
- Next-Generation Sequencing and Deletion/Duplication Analysis of SPRED1 Only (SPD1-NG)
- Next-Generation Sequencing of HRAS Only for Costello Syndrome (CST-NG)
- Next-Generation Sequencing of GNAS Only for McCune-Albright Syndrome (GNAS-NG)
- RNA-Based NF1 Testing on Blood (NF1-R)
- RNA-Based NF1 and Genomic DNA-Based SPRED1 Testing on Blood (NFSP-R)
Biopsy-Based Testing
Prior Contact Required
Please contact the UAB Medical Genomics Laboratory before scheduling or collecting a biopsy. Laboratory staff will provide specimen-specific guidance and arrange shipment of the appropriate collection and transport media before the procedure.
Please contact the UAB Medical Genomics Laboratory before scheduling or collecting a biopsy. Laboratory staff will provide specimen-specific guidance and arrange shipment of the appropriate collection and transport media before the procedure.
Fresh or Frozen Tumor-Based Testing
For more information, test requisition forms, or collection kits, please contact the UAB Medical Genomics Laboratory at 205-934-5562 or medgenomics@uabmc.edu.