Legius Syndrome
Use
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. This test detects >99.9% of described mutations in SPRED1 with high analytic sensitivity.
Special Instructions
Family variant testing is available at no additional cost for blood relatives of patients who undergo full single gene sequencing, multigene panel testing, or exome sequencing at Ambry Genetics and are found to have a pathogenic or likely pathogenic variant, within 90 days of the original report date. Testing is available only to patients receiving medical care in the U.S or US territories.
Limitations
While this test is designed to identify most detectable pathogenic and likely pathogenic variants in SPRED1, there may be pathogenic variants that the testing technology is unable to detect. There is also a possibility of sample mix-up or technical problems that may cause inaccurate results. Results may be uninterpretable or of uncertain significance due to limitations in technology and incomplete knowledge of genes.
Methodology
PCR-based (PCR)
Biomarkers
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided
Collection Instructions
Phlebotomy draw is required unless alternative specimen is indicated due to patient history of transplant or active hematological disease.