Legius Syndrome (SPRED1) Sequencing and Deletion/Duplication

Background Information for Legius Syndrome (SPRED1) Sequencing and Deletion/Duplication:
Characteristics: Cafe au lait spots, axillary and inguinal freckling, learning disabilities and macrocephaly. Neurofibromas, lisch nodules and CNS tumors are not observed.
Incidence: Unknown; may represent 0.5 percent of neurofibromatosis type 1 diagnoses or 8 percent of those with isolated cafe au lait spots.
Inheritance: Autosomal dominant.
Cause: Pathogenic SPRED1 gene mutations.
Clinical Sensitivity: Unknown.
Methodology: Bidirectional sequencing and multiplex ligation-dependent probe amplification (MLPA) of the entire coding region and intron-exon boundaries of the SPRED1 gene.
Analytical Sensitivity and Specificity: 99 percent.
Limitations: Diagnostic errors can occur due to rare sequence variations. Regulatory region mutations and deep intronic mutations will not be detected. Deletion/duplication breakpoints will not be determined.

This test was developed and its performance characteristics determined by ARUP Laboratories. It has not been cleared or approved by the US Food and Drug Administration. This test was performed in a CLIA certified laboratory and is intended for clinical purposes.

Counseling and informed consent are recommended for genetic testing. Consent forms are available online.