- Patient Preparation
- Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).
- Specimen Preparation
- Transport 3 mL whole blood. (Min: 1 mL)
- Storage/Transport Temperature
- Unacceptable Conditions
- Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
Characteristics: Cafe au lait spots, axillary and inguinal freckling, learning disability 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 of the entire SPRED1 coding region and intron-exon boundaries. Bidirectional sequencing of the NF1 gene, exon 22
(exon 17 by NF Consortium nomenclature).
Analytical Sensitivity and Specificity: 99 percent.
Limitations: Some SPRED1 gene regulatory region mutations, deep intronic mutations, and large deletions/duplications will not be detected. Diagnostic errors can occur due to rare sequence variations.
Counseling and informed consent are recommended for genetic testing. Consent forms are available online at www.aruplab.com.
See Compliance Statement C: www.aruplab.com/CS
|Component Test Code*||Component Chart Name|
|2002946||Legius Syndrome Specimen|
|2002947||Legius Syndrome Sequencing Interp|
- NF1-Like Syndrome (Legius Syndrome (SPRED1) Sequencing and (NF1) Sequencing Exon 22 (Exon 17))
- SPRED1 (Legius Syndrome (SPRED1) Sequencing and (NF1) Sequencing Exon 22 (Exon 17))