Legius Syndrome

Legius syndrome is characterized by multiple pigmented skin lesions and overlaps clinically with neurofibromatosis 1 (NF1). Genetic testing of SPRED1 is necessary to confirm the diagnosis of Legius syndrome. 

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Quick Reference
Test Code: 5724 Test Name: SPRED1 seq and del/dup TAT 14-21 days Gene: 1
Test Code: 5726 Test Name: SPRED1 specific site analysis TAT 7-14 days Gene: 1
Test Code: 5728 Test Name: NF1 & SPRED1 seq and del/dup TAT 14-21 days Genes: 2
Test Code: 5730 Test Name: NF1 reflex SPRED1 TAT 2-5 weeks Genes: 2

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Mutation Detection Rate

This test can detect >99.9% of described mutations in SPRED1, when present (analytic sensitivity).

Test Description

Genomic deoxyribonucleic acid (gDNA) is isolated from the patient’s specimen using a standardized kit and quantified by agarose gel electrophoresis. Polymerase chain reaction (PCR) is used to selectively amplify regions of gDNA corresponding to SPRED1 followed by double stranded sequencing in sense and antisense directions to detect sequence variations. Gross deletion/duplication analysis is performed using the multiplex ligation-dependent probe amplification (MLPA) kit.

SPRED1 exons 1-7 plus at least 20 bases into the 5’ and 3’ ends of all the introns are analyzed Human Gene Mutation Database (HGMD). Online search engines (e.g. PubMed) and the SPRED1 (ARUP) database are used to search for previously described SPRED1 mutations and polymorphisms. Sequence analysis is based on the following NCBI reference sequence: SPRED1 - NM_152594.2.

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