Newborn Screening Complete (Hb + 7 Biochemical Tests + TMS + GC-MS) – IEM Panel Extended

🍼 Newborn Screening Complete – Extended IEM Panel (Hb + 7 Biochemical Tests + TMS + GC-MS)

Published by Lab Decoded | Updated May 2025

🔍 What is Newborn Screening?

Newborn screening is a critical health program that detects potentially serious but treatable conditions in newborn babies before symptoms appear. By identifying genetic, metabolic, and endocrine disorders early, it allows timely intervention and prevents irreversible damage, disability, or death.

📋 What is Included in the Extended IEM Panel?

The Extended Newborn Screening Panel includes the following components:

Hemoglobinopathy (Hb) screening: Detects sickle cell disease, thalassemia, and hemoglobin variants.
7 Biochemical tests:
- Congenital Hypothyroidism (TSH)
- Congenital Adrenal Hyperplasia (17-OHP)
- Galactosemia (Galactose & GALT)
- Biotinidase Deficiency
- G6PD Deficiency
- Cystic Fibrosis (IRT)
Tandem Mass Spectrometry (TMS): Screens for over 40+ Inborn Errors of Metabolism (IEM), such as amino acid, fatty acid oxidation, and organic acid disorders.
Gas Chromatography–Mass Spectrometry (GC-MS): Used to detect rare metabolic conditions like organic acidurias and urea cycle disorders with high specificity.

🧬 Why is Extended Screening Important?

Many babies born with metabolic or genetic disorders appear healthy at birth. Symptoms can manifest later, often when damage is irreversible. Early detection through advanced screening technologies like TMS and GC-MS can:

Prevent severe intellectual or physical disability
Reduce hospitalizations and medical costs
Improve long-term health outcomes
Guide timely medical or dietary interventions

🧪 Sample Collection & Testing Method

A few drops of blood are collected from the baby’s heel within 24–72 hours of birth, dried on a special filter paper (DBS card), and sent to a certified laboratory. The tests are performed using sophisticated platforms like:

High-Performance Liquid Chromatography (HPLC): for Hemoglobin variants
ELISA and Fluorometric Assays: for biochemical disorders
Tandem Mass Spectrometry (TMS): for expanded metabolic profiling
GC-MS: for confirming complex metabolic anomalies

📈 Conditions Detected by TMS and GC-MS

These include but are not limited to:

Phenylketonuria (PKU)
Maple Syrup Urine Disease (MSUD)
Medium-chain acyl-CoA dehydrogenase deficiency (MCADD)
Isovaleric Acidemia, Methylmalonic Acidemia, Propionic Acidemia
Ornithine transcarbamylase deficiency (UCD)

📊 When Will Results Be Available?

Hb and Biochemical tests: within 3–5 working days
TMS & GC-MS: within 7–10 working days

Abnormal results are confirmed through follow-up testing and a genetic consultation may be recommended.

💡 FAQs

Is newborn screening mandatory? It depends on national/state regulations. However, it is strongly recommended for every baby.
Does it hurt the baby? Only a small heel prick is performed. The baby may cry briefly, but the benefits far outweigh the discomfort.
Can these conditions be cured? While some IEMs cannot be cured, early diagnosis allows proper management with diet, medication, or enzyme therapy.

✅ Conclusion

The Extended Newborn Screening Panel is a lifesaving, once-in-a-lifetime test. It combines advanced technologies to detect rare but serious conditions early in life, giving every baby the best possible start. Talk to your pediatrician about including this panel as part of your newborn’s health checkup.