SOLICITATION NOTICE
B -- Genetic Testing
- Notice Date
- 8/30/2006
- Notice Type
- Solicitation Notice
- NAICS
- 541690
— Other Scientific and Technical Consulting Services
- Contracting Office
- Department of Health and Human Services, National Institutes of Health, Office of Administration, 6011 Executive Blvd, Rm 538, Rockville, MD, 20892-7663
- ZIP Code
- 20892-7663
- Solicitation Number
- 263-Q-DT-0213
- Response Due
- 9/8/2006
- Archive Date
- 9/23/2006
- Description
- The National Institutes of Health (NIH) intends to negotiate on a sole source basis with Preventiongenetics LLC, 3700 Downwind Drive Marshfield, WI 54449 For a continuation of the services being provided for The Office of Rare Diseases (ORD). Preventiongenetics is the only known source capable of providing the required services because of his involvement in this project over the past months. Further, inherent duplication of cost to the Government would be time and cost prohibiting. Background: Joubert syndrome (JS) is marked by ataxia, hypotonia, abnormal ocular movements, apraxia, neonatal respiratory anomalies, mental retardation. agenesis/hypoplasia of the cerebellar vermis and a brain malformation known as the "molar tooth sign" (MTS) on cranial MRI. JS patients have substantial phenotypic variation. MTS is considered to be the most characteristic diagnostic feature. Some JS patients develop retinal dystrophy and/or progressive renal failure. For more information, see Parisi and Glass (Gene Reviews, www.cenetests.orc 2006). JS is inherited in an autosomal recessive manner. Researchers in several laboratories have identified mutations in the AHI1 gene as a cause of JS. AHII has 28 exons, the coding region begins in exon 3. About 40 different mutations have been identified in the AHI1 gene; none are particularly frequent. Additional cases of JS have also been linked to deletions in the NPHP1 gene and to two other unidentified genes located near 1 1p12- q13.3 and 9q34.3. Statement of Work This purchase order will establish the first clinically available testing for Joubert Syndrome. The strategy is a tiered approach to full sequencing of AHII and genotyping of (about) 3 STRP markers for analysis of the deletion associated with NPHPI. The first AHI1 tier will involve sequencing of the 12 exons previously shown to harbor mutations. If only one or no mutation is identified, the remaining exons will then be amplified. If no mutations are identified, then testing for the homozygous deletion of NPHPI will be performed. Specifically, this particular test involves DNA sequencing of each AHI1 gene exon within the coding region along with -50 bases of non coding flanking DNA on each side. The test has two tiers. The first tier consists of the 12 exons in which mutations have been reported in the literature. If only zero or one mutations are found in the first tier, then testing continues with the second tier consisting of sequencing of the remaining exons. If a pair of likely causative mutations is not found within AHIL then a simple test for homozygous deletion of the entire NPHPI gene is performed by attempting the PCR amplification of several short tandem repeat polymorphisms within the commonly deleted region. Candidates for this test are patients with symptoms consistent with JS and the family members of patients who have known mutations. Before testing, patients should first have a baseline neurological examination and brain MRI. If the molar tooth sign is clearly present and other symptoms of JS are present, then genetic testing is indicated. In addition to this full gene test, PreventionGenetics also offers targeted sequencing of known familial AHI1 mutations. The prevalence of JS is approximately 1 in 100,000. From results reported in the literature, it is estimated that about 15% of JS patients with clear clinical signs will yield positive results with this test. This proposed action is for services for which the Government intends to solicit and negotiate with only one source. Interested parties may identify their interest and capability to respond to the requirement or submit proposals. This notice of intent is not a request for competitive quotations. However, all quotes received within ten days after the date of publication of this synopsis will be considered by the Government . A determination by the Government not to compete this proposed simplified acquisition requirement based upon responses to this notice is solely within the discretion of the Government. Information received will normally be considered solely for the purpose of determining whether to conduct a competitive acquisition. 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 than ten (10) business days from the date of this announcement, August 30, 2006, due in COB Sept. 08, 2006. 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 Sept. 05, 2006.
- Place of Performance
- Address: Bethesda, MD
- Zip Code: 20892
- Country: UNITED STATES
- Zip Code: 20892
- Record
- SN01129644-W 20060901/060830220358 (fbodaily.com)
- Source
-
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