Reference IntervalNormal range/expected value(s) for a specific disease state. May also include abnormal ranges.
By report
Interpretive DataBackground information for test. May include disease information, patient result explanation, recommendations, details of testing, associated diseases, explanation of possible patient results.
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.
Compliance Category
Laboratory Developed Test (LDT)
NoteAdditional information related to the test.
Hotline History
N/A
CPT CodesThe American Medical Association Current Procedural Terminology (CPT) codes published in ARUP's Laboratory Test Directory are provided for informational purposes only. The codes reflect our interpretation of CPT coding requirements based upon AMA guidelines published annually. CPT codes are provided only as guidance to assist clients with billing. ARUP strongly recommends that clients confirm CPT codes with their Medicare administrative contractor, as requirements may differ. CPT coding is the sole responsibility of the billing party. ARUP Laboratories assumes no responsibility for billing errors due to reliance on the CPT codes published.
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.
AliasesOther names that describe the test. Synonyms.
SPRED1 sequencing and deletion/duplication
Legius Syndrome (SPRED1) Sequencing and Deletion/Duplication
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