Updated on 20/10/21
Extended Screening Policy
Regional Policy template for newborn screening for Inherited Metabolic Diseases (IMDs) in the South West.
Turn around time & Quality standards
The UK National Screening Committee sets national standards for newborn screening. Several of these relate to turn-around time and availability of results.
- Timely receipt: Samples should be received by the laboratory in less than or equal to 3 working days after sample collection.
- Avoidable repeat rate: Acceptable level ≤2.0%, Achievable level ≤1.0%.
- Timeliness of repeat sample collection:
- Following a borderline CHT result, repeat samples should be collected 7-10 days after the initial sample. (Acceptable level: ≥ 80.0%, Achievable level: ≥ 90.0%)
- Following a CF inconclusive result, samples should be collected at 21-24 days of age. (Acceptable level: ≥ 80.0%, Achievable level: ≥ 90.0%)
- Once the sample has been received by the laboratory, positive screening results for IMDs and CHT should be available and clinical referral initiated within 3 working days of sample receipt.
Receipt into clinical care:
- Babies in whom an inherited metabolic disease is suspected through newborn screening should attend their first clinical appointment by 14 days of age. Targets for babies in whom CHT, SCD or CF is suspected vary between 14 and 35 days of age depending on the number of samples collected and types of tests performed in the diagnostic algorithm.
Timeliness of results to parents:
- Letters to parents from the child health record departments for babies in which NONE of the 9 conditions are suspected, must be sent at ≤ 6 weeks of birth, or ≤ 6 weeks of notification of movement into the area.
Laboratory Quality Assurance
Within our UKAS Accredited laboratory, we strive to provide results of excellent quality. To ensure that we continue to improve our service we hold regular quality meetings, perform a detailed annual audit and have annual governance regional meetings. We also participate in the following external quality assurance schemes:
- UKNEQAS for Newborn Screening (includes Phe, Tyr, TSH, IRT, C8, C10, C8/C10, C5, C5DC, Leu, Met)
- UKNEQAS Sickle cell screening
- CDC Bloodspot Galactosaemia screen
- ERNDIM Bloodspot acylcarnitines
- ERNDIM Organic acid profile
- ERNDIM Organic acid proficiency DPT
- ERNDIM Special Assays in Dried Blood Spots
Contact Newborn Screening
Pathology Sciences Laboratory
Telephone: 0117 414 8412
Fax: 0117 414 8413
Opening times: 9am - 5pm Monday - Friday excluding bank holidays.
Clinical advice & interpretation is available during working hours.
Access the NHS Blood Spot Screening Programme Centre