B -- Genetic Test ing

This is a combined synopsis/solicitation for commercial items prepared in accordance with the format in FAR Subpart 12.6, under Simplified Acquisitions procedures in Subpart 13 as supplemental with additional information included in this notice. This announcement constitutes the only solicitation; quotes are being requested and a written solicitation will not be issued. The solicitation number RFQ 263-2007-Q-DT-0177 is issued as a Request for Quotes. This is an UNRESTRICTED solicitation allowing both large and small businesses to submit their proposal. This solicitation and its incorporated provisions and clauses are those in effect through Federal Acquisition Circular (FAC) 2005-09. be required to provide the following services. The period of performance shall be one (1) year from the date of award. 2. The Contractor shall be a board-certified clinical molecular geneticist. 3. The Contractor shall be a Fellow of the American Board of Medical Genetics and a Diplomat in Clinical Molecular Genetics or equivalent. 4. The Contractor shall develop collaborations with appropriate researchers, clinicians and advocacy appropriate for the rare disease identified for translation. 5. The Contractor shall establish and make available molecular testing for the rare diseases identified for genetic test translation. 6. The following genetic disorders and genes for translation shall include: ? Autosomal Recessive Polymicrogyria - Gene: GPR56. ? Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects (CHILD) syndrome - Gene: NSDHL. ? X-Linked Alport Syndrome (XLAS) - Gene: COL4A5. 7. The Contractor shall assure validation of test results. The Contractor shall obtain samples with known mutations to test in a blinded fashion for formal test validation purposes prior to their implementation. 8. The Contractor/laboratory shall be experienced in offering full sequencing as a diagnostic test. 9. The Contractor shall follow appropriate guidelines of the Collaborative Education and Test Translation (CETT) Program for addressing Variants of Unknown Significance (VOUS). 10. The Contractor shall develop educational materials for clinicians, patients and geneticists regarding use of genetic testing in the diagnosis of the rare diseases under genetic test translation. 11. The Contractor shall create/expand a gene review document within one (1) year of establishing genetic testing for the rare diseases identified for genetic test translation. 12. The Contractor shall collect and store de-identifiable clinical description and genetic mutation information obtained at the time of genetic testing. 13. All testing shall be performed at the Contractor?s location. Concerns that respond to this synopsis shall furnish concise responses directed specifically to the requirements mentioned above and are invited to submit proposal and/or capability statements in an Original Plus Two (2) no later August. 29, 2007. Written responses shall include complete description of services to be provided, containing sufficient technical information to permit agency analysis to establish bona fide capability to meet the stated requirements as listed above. Proposals And/Or Capabilty Statements Shall BE Sent To: (a) If mailing your capabilities through the U.S. Postal Service use the following address: National Institutes of Health, Office of Logistics and Acquisition Operations, OA, 6011 Executive Blvd. Rm. 529V, ATTN: Lloyd Garnes, Bethesda, MD 20892, telephone: 301-402-3341; fax: 301-480-3476. (b) If hand delivering, or using a courier service such as: UPS, FeDex, etc., use the following City, State and Zip Code: Rockville, MD 20852. Respondents will not be notified of the evaluation results. (c) Questions may be emailed to Lloyd Garnes at garnesl@od.nih.gov no later than August 29, 2007.