Sotos Syndrome (NSD1)
Sotos syndrome is an autosomal
dominant overgrowth condition due to mutations in the NSD1 gene, which has
been localized to 5q35. Individuals present with a typical facial
appearance, including a long narrow face and prominent narrow jaw,
down-slanting palpebral fissures, frontal bossing, malar flushing and a
sparsity of hair in the frontotemporal region. Developmental delay is
also a common feature.
Sample requirements:
NSD1 testing offered in this laboratory uses DNA as the starting nucleic
acid for analysis. This requires 5 to 10 ml of peripheral blood collected in
an EDTA Vacutainer (lavender top).
Transport:
All samples should be shipped at room temperature and delivered via
overnight courier. (FedEx is preferred.) Do not freeze the specimen
prior to transport. It is
preferable to ship samples early in the week for delivery Monday through
Friday. Please contact JoAnne Babb or Mike Friez
(1-800-473-9411) in the Molecular Diagnostic Laboratory for details
regarding transport.
Analysis standards:
Testing will be completed within 4 weeks of sample receipt. The
referring party will be contacted should delays arise. Technical staff
members assess the quality and interpretation of all test results.
Following an independent analysis of results by the Director of the
Laboratory, a hard copy report will be issued. Verbal reports with
consultation are available upon request by the referring party.
Sequencing analyses:
- Unknown mutation CPT codes: 83890,
83898 (x13), 83904 (x10), 83909 (x10), 83912
- Known
mutation CPT codes: 83890, 83898, 83904 (x2), 83909, 83912
Deletion/Duplication analysis:
- CPT codes: 83890, 83892, 83900, 83901
(x10), 83909, 83912
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