MGL-NICHD provides sequence information, including possible damaging mutations, on potentially disease causing genes of patients diagnosed with one or more disorders by NICHD Principal Investigators. The proposed technology is Next Generation Sequencing (NGS) Solid 4 platform (Applied Biosystems) after targeted enrichment of the genomic regions of interest (Agilent Technologies). The sequence analysis is conducted under CLIA laboratory conditions (CLIA ID# 21D2007566), and the results are reported to the requesting physicians; the testing is covered by protocols/consents held by the requestors. The positive variants of interest are confirmed by bi-directional Sanger sequencing.
For efficiency, on every Solid 4 run, additional genes are analyzed. The sequence information on these additional genes, and Sanger confirmation of the identified variants, will be available to the corresponding PIs under request. In general, sequence information on the additional genes will be made anonymous and will be used for research purposes only.
Individual patients and/or kindreds will be referred for analysis by the NICHD PIs after written request (Appendix A, MGL-NICHD Test Requisition Form). A total of five-hundred patients are anticipated to be referred for analysis every year. Enrollment protocols and informed consents will be held by the requestor. MGL-NICHD accepts as a specimen type only purified human DNA. DNA specimen is subject of rejection if does not satisfy the MGL-NICHD requirements for quality and quantity (Appendix B, MGL-NICHD Instructions for Specimen Collection and Handling).
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