Neurofibromatosis Type 1/Legius Syndrome

Test Information

Title
Neurofibromatosis Type 1/Legius Syndrome
Lab
Category
Cancer
Test Name (CMS Title)
Neurofibromatosis type 1
Gene/Platform/Region List
NF1, SPRED1
Test type
Samples Accepted
Blood, DNA, DNA (Not Accepted for MLPA)
Indications
Diagnosis, Carrier Cascade Testing
Test Methodology
Sequencing
Methodology Notes
NGS + Targeted Array; MLPA
Disease/Condition
Neurofibromatosis Type 1(NF1), Von Recklinghausen Disease, Legius Syndrome

Last Updated: November 14, 2025

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