| Interpretive Data: |
Background Information for Legius Syndrome (SPRED1) Sequencing and (NF1) Sequencing Exon 22 (Exon 17):
Characteristics: NF1-like syndrome with 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 NF1 diagnoses or 8 percent of those with isolated cafe au lait spots.
Inheritance: Autosomal dominant.
Cause: Pathogenic SPRED1 gene mutations and a NF1 gene 3 base pair exon 22 (exon 17) deletion.
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. In the NF1
gene, only exon 22 (exon 17) is analyzed. Rare diagnostic errors can occur due to primer site mutations.
Counseling and informed consent are recommended for genetic testing. Consent forms are available online at www.aruplab.com.
Refer to Statement C under Testing Information at http://www.aruplab.com.
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| CPT Code(s): |
83891 Isolation; 83898 x10 Amplification; 83904 x10 Sequencing; 83909 Capillary electrophoresis; 83912 Interpretation
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Cross References: |
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))
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