Test guide

Newborn Screening Panel (Inborn Errors of Metabolism)

Population screening of newborns from dried blood spots for treatable inborn errors of metabolism before symptoms appear.

For professionalsReviewed 2026-10-06

What it is for

Detects treatable congenital metabolic, endocrine, and — in some programmes — severe combined immunodeficiency conditions in the first days of life, enabling intervention that prevents irreversible harm. Panels are defined per national programme; tandem mass spectrometry covers dozens of amino-acid and acylcarnitine disorders from one punch.

Limitations

Screening is not diagnostic: positives require immediate confirmatory testing at a referral centre. Panel scope varies by country and programme; a "screen negative" covers only the screened conditions. Timing matters — samples taken too early can produce false positives for some analytes.

Before you test

For programmes: collect per the national protocol’s timing (commonly 24–72 hours of life). For parents: the heel-prick sample is taken in hospital or at the first home visit; ensure the newborn screening card is completed correctly.

Health information only. This guide does not diagnose or replace advice from a healthcare professional.

Also known as

  • newborn metabolic screening
  • dried blood spot screening
  • tandem MS screening

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