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This publication covers all inherited metabolic diseases (IMDs) and incorporates the previous PKU and MCADD laboratory handbooks.
Letter templates and text which can be used by immunology services or teams to send to parents whose baby has been referred to immunology.
Annual reports on data collected by the NHS Newborn Blood Spot (NBS) Screening Programme.
Newborn blood spot (NBS) screening guidance for babies under a year of age with no available screening results.
Information for parents of babies with possible maple syrup urine disease (MSUD) following a baby’s screening test result.
Information for parents and carers who are offered screening for severe combined immunodeficiency (SCID) for their babies.
This provides details for screening providers on moving from printed leaflets to digital alternatives.
Information and advice for parents of babies with suspected medium-chain acyl-CoA dehydrogenase deficiency (MCADD) following a baby’s screening test result.
Information for parents about congenital hypothyroidism (CHT) following a baby’s positive screening test result.
Codes for screening laboratories and child health records departments to record outcomes of NBS screening.
Guidance on the referral and management of babies with congenital hypothyroidism (CHT).
This information explains what a suspected screening result for cystic fibrosis (CF) means.
This document describes the newborn blood spot (NBS) screening pathway.
National processes and guidance for the collection and reporting of data in the NHS screening programmes.
Instructions on how to submit key performance indicator (KPI) data for the antenatal and newborn blood spot (NBS) screening programmes.
Recommendations for maternity services to help meet the acceptable threshold for the newborn blood spot avoidable repeat tests key performance indicator.
An overview of the newborn blood spot screening end-to-end pathway.
Information for commissioners and screening providers, to help improve access to screening for people with severe mental illness.
Statutory guidance to help health professionals provide an inclusive screening programme to all eligible people.
Following this clinical pathway will help immunology services and teams to make sure babies are referred into diagnostic testing in the required timescales.
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