Legius Syndrome - Ambry Genetics

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Neurology

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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.

Genetic test for Legius Syndrome by Ambry Genetics

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.

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.

Genes analyzed

5724

Legius syndrome

14-21 days

1 Gene

Legius syndrome

1 Gene

SPRED1

Test Requisition Form

Comprehensive

Neurology

Consent

Patient

Mutation Detection Rate

>99.9%

Legius Syndrome

can detect the 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.

We offer family variant testing at no additional cost

We offer family variant testing for all blood relatives of patients who undergo full single gene sequencing, multigene panel testing, exome testing, or whole genome testing at Ambry Genetics and are found to have a pathogenic or likely pathogenic variant. Testing must be completed within 180 days of the original report date. Whenever possible, more closely related relatives should be tested before more distant relatives. If you or a family member are interested in learning more about our family testing program or when family testing may be clinically indicated, please contact us or your provider for additional information. Note that Ambry can only provide such family testing services to patients receiving medical care in the U.S or US territories.