Testing the samples

Routine Screening

We routinely screen all samples for:

• Phenylketonuria
• Congenital primary hypothyroidism
• Cystic fibrosis
• Galactosaemia

And, since April 1998, the following very rare disorders:

• Some aminoacidopathies:
  These include: maple syrup urine disease, homocystinuria (CBS deficiency), tyrosinaemias, citrullinaemia and argininosuccinic aciduria.



• Some organic acidaemias:
  These include: methylmalonic aciduria, propionic acidaemia, isovaleric acidaemia, glutaric aciduria type I, 3-ketothiolase deficiency and 3-methylcrotonyl CoA carboxylase deficiency.



• Some fatty acid oxidation defects:
  These include carnitine transporter defect, carnitine translocase deficiency, carnitine palmitoyl transferase deficiencies, short-, medium-, and very long-chain and long-chain 3-hydroxy acyl-CoA dehydrogenase deficiencies, glutaric aciduria type II.

Results/Resample Request

• As a routine, all primary results are available at midday, 24 hours after receipt of sample.



• Results requiring urgent follow-up are telephoned, e-mailed and/or facsimiled to the clinician nominated by the hospital of birth as responsible for the baby.



• Only when babies require a further investigation due to abnormal or unsuitable samples is an individual hard copy report sent to the collection source.



• Otherwise, every two weeks a 'Confirmation Report' is sent to each hospital of birth to indicate babies from whom samples have been received. This report also indicates those requiring re-samples.



• If re-samples are not received within two weeks, a repeat request letter is sent.

Records and Data Collection

• The service is computerised. A record of blood spot samples received is stored on computer from 1989. From 1993, all sample details and results are stored. All results before 1993 need to be obtained by manual search of hard copy files.



• Hard copies of all written reports are kept on file for a minimum of 2 years.



• Inborn Error Registers are kept on computer and in hard copy.