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Department of Genetics
Heersink School of Medicine
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      • NF1, Legius Syndrome, and RASopathies
        • NextGen NF1 only
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NF1, Legius Syndrome, and RASopathies

TESTING OPTIONS:

Blood-based

  • Next-Gen Sequencing and Deletion/Duplication Analysis of NF1 only (NF1-NG)
  • Next-Gen Sequencing and Deletion/Duplication Analysis of NF1 and SPRED1 (NFSP-NG)
  • Non-NF1 Rasopathy panel by Next-Gen Sequencing and Deletion/Duplication Analysis of LZTR1 and SPRED1 (NNP-NG)
  • Expanded NF1-Rasopathy panel by Next-Gen Sequencing and Deletion/Duplication of LZTR1, NF1, and SPRED1 (RAS-NG)
  • Peripheral Nerve Sheath Tumor Panel by Next-Gen Sequencing (PNT-NG)

  • Next-Gen Sequencing and Deletion/Duplication Analysis of SPRED1 only (SPD1-NG)
  • Next-Gen Sequencing of HRAS Only for Costello Syndrome (CST-NG)
  • Next-Gen Sequencing of GNAS Only for McCune-Albright Syndrome (GNAS-NG)
  • RNA-based NF1 Testing on Blood (NF1-R)
  • RNA-based NF1 and gDNA-based SPRED1 Testing on Blood (NFSP-R)

Biopsy-based
Contact with the MGL is required prior to taking biopsy/biopsies from your patient so that individualized advice and ship out of appropriate collection/transport media can be provided in advance of the procedure.

  • RNA-based NF1 Testing on Cultured from Affected Tissues (NF14N/NF14C)

Fresh/Frozen Tumor-based

  • Peripheral Nerve Sheath Tumor Panel by Next-Gen Sequencing (PNT-NG)



For more information, test requisition forms, or sample collection and mailing kits, please call: 205-934-5562


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