Detection of germline genetic mutations in patients with bone marrow failure /aplastic anemia using Next Generation Sequencing technologies. As part of the research, the lab requires sequencing of patients for known inherited disorders in a CLIA-approved genetic testing laboratory. Next Generation Sequencing on 111 genes that are reported to be altered in various types of hematologic neoplasms. Nucleic acid is isolated from fresh cells and then followed by the complete sequence analysis of the coding regions of the included genes, the 5'UTRs of ANKRD26, DKC1, TERC and TERT, and c.1017+572C>T and 1017+582G>T in GATA2.The target region includes all coding exons of the transcripts listed below, plus 10bp of flanking intronic sequence. Targets of interest are enriched and amplified using the IDT xGen Exome Research Panel probemix and a custom designed spike-in probe.

DNA is sequenced using Illumina technology with 150bp paired-end reads. Sequence reads are aligned using the UCSC human genome build hg19 as a reference. Variants are identified and evaluated using a validated, custom bioinformatics pipeline. Gaps or regions of poor coverage in the next-generation data set are filled by Sanger sequencing. All pathogenic and likely pathogenic variants are confirmed by Sanger sequencing

Contractor Requirements / Tasks to be Performed

The Contractor shall provide:

• The kits necessary for shipping our samples to vendor lab 
• Genetic Sequencing of roughly 30 blood /bone marrow samples sent to vendor lab over a period of 6 weeks.
• A report from each sample sent indicating the results obtained. It will be shown in vendor website and we get a password to access them when ready.