Neurofibromatosis Type 1 and Legius Syndrome Panel, Sequencing and Deletion/Duplication

Casandra

Casandra Test Code AR36248Version 1 (DRAFT)

Performing Lab

Lab ARUP LaboratoriesLab Test ID 3003927CPT Codes 81405, 81408, 81479

Neurofibromatosis Type 1 and Legius Syndrome Panel, Sequencing and Deletion/Duplication

Also known as: NF1 NGS

Clinical Use

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Use

This test confirms the diagnosis of neurofibromatosis type 1 or Legius syndrome by identifying pathogenic variants in the NF1 and SPRED1 genes. Neurofibromatosis type 1 (NF1) features include cafe au lait macules, axillary and inguinal freckling, cutaneous fibromas, and Lisch nodules. Legius syndrome shares some symptoms like cafe au lait spots and freckling but lacks neurofibromas and CNS tumors. This test uses massively parallel sequencing to detect germline variants, useful for genetic consultation and determining disease-associated familial variants.

Special Instructions

Submit the Neurofibromatosis Type 1 and Legius Syndrome Patient History Form and Informed Consent for Genetic Testing, particularly for New York patients. Testing from New York clients will be sent to a New York state-approved laboratory. Specimens must be refrigerated; serum, plasma, frozen specimens, buccal swabs, and FFPE tissue are unacceptable.

Limitations

The test has inherent limitations, including an inability to detect all potential variants due to technical constraints, such as regulatory and deep intronic variants not being identified. The assay is not designed to detect low-level mosaic or somatic variants, gene conversion events, inversions, translocations, mitochondrial DNA mutations, or repeat expansions. Sensitivity limitations exist for single exon deletions and duplications less than two exons in size. Diagnostic errors may occur due to rare sequence variations.

Test Details