Neurofibromatosis Type 1/Legius Syndrome

Test Information

Titre
Neurofibromatosis Type 1/Legius Syndrome
Catégorie
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
Diagnostics, Carrier Cascade Testing
Test Methodology
Sequencing
Methodology Notes
NGS + Targeted Array; MLPA
Disease/Condition
Neurofibromatosis Type 1(NF1), Von Recklinghausen Disease, Legius Syndrome

Dernière Mise à Jour: 09 décembre 2025