SMA Newborn Screening Kits

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        "title": "SMA Newborn Screening Kits",
        "description": "The Scottish Newborn Screening Laboratory has been commissioned to participate in the in-service evaluation for Spinal Muscular Atrophy (SMA) organised by the National Screening Committee. NHSGG&C require newborn screening kits that measure both SMN1 and SMN2 genes simultaneously. The SMN2 copy number must be screened for at the same time as the SMN1 deletion in keeping with the Scottish screening protocol. The requirement is to screen dried blood spot samples from newborn babies for Spinal Muscular Atrophy (SMA).",
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        "procurementMethodRationale": "In order to award this contract compliantly, NHSGGC will follow Regulation 33. (b)where the works, supplies or services can be supplied only by a particular economic operator for any of the following reasons (ii)competition is absent for technical reasons. There are several commercial kits available for screening for SMA. This means if an alternative kit is used, SMA can be detected but not the variability or severity of this disease. The screening pathway established in Scotland by clinicians includes measurement of SMN1 and also measurement of SMN2 copy numbers. Therefore, to allow the laboratory to fulfil the Scottish screening pathway, SMN2 copy numbers must be measured in addition to the SMN1 deletion. The only identified solution is the proposed awarded kit. This adheres to the recommended screening pathway in Scotland. The benefit to the patient is that the full severity of the disease will be known at the initial appointment with the clinical team. In traditional pathways the patient will have to wait for diagnostic testing. Patients with the most severe forms of SMA have very severe symptoms caused by muscle wastage. This results in reduced movement, often resulting in an inability to sit or walk, and the need for breathing and feeding tubes. If the baby is able to start treatment before these symptoms present, they will likely never develop these symptoms. By knowing the severity of the disease as early as possible, gives the best chance for treatment to be given pre-symptomatically, thus reducing the morbidity and morality associated with this disease. In addition to this, there is significant published evidence to show that having the disease severity known at the initial appointment reduces anxiety for the family. No other commercial kits for SMA screening include the SMN2 copy number. The SMN2 copy number must be screened for at the same time as the SMN1 deletion in keeping with the Scottish screening protocol.",
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                "description": "The Scottish Newborn Screening Laboratory has been commissioned to participate in the in-service evaluation for Spinal Muscular Atrophy (SMA) organised by the National Screening Committee. NHSGG&C require newborn screening kits that measure both SMN1 and SMN2 genes simultaneously. The SMN2 copy number must be screened for at the same time as the SMN1 deletion in keeping with the Scottish screening protocol. The requirement is to screen dried blood spot samples from newborn babies for Spinal Muscular Atrophy (SMA).",
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                "description": "The Scottish Newborn Screening Laboratory has been commissioned to participate in the in-service evaluation for Spinal Muscular Atrophy (SMA) organised by the National Screening Committee. NHSGG&C require newborn screening kits that measure both SMN1 and SMN2 genes simultaneously. The SMN2 copy number must be screened for at the same time as the SMN1 deletion in keeping with the Scottish screening protocol. The requirement is to screen dried blood spot samples from newborn babies for Spinal Muscular Atrophy (SMA).",
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