New Born Screening NBS - 11 Conditions + Heamoglobinopathies
Also Known As
Test Parameters Included
- Newborn Screening Panel - 11 Conditions (Congenital Hypothyroidism, Congenital Adrenal Hyperplasia, Phenylketonuria, Maple Syrup Urine Disease, MCAD Deficiency, Galactosemia, Cystic Fibrosis, Biotinidase Deficiency, SCID, Sickle Cell Disease, Thalassemia)
- Hemoglobinopathy Screening (HbS, HbC, HbE, Beta-Thalassemia Trait via HPLC/IEF/DNA Analysis)
- Pathologist Molecular Genetics Remark - correlated with neonatal reference intervals and clinical follow-up recommendations
Department
Methodology
This expanded newborn screening panel integrates Tandem Mass Spectrometry (TMS) for a set of metabolic conditions, and specialized biochemical/molecular assays for Hemoglobinopathies. The combination ensures a comprehensive screen for critical conditions. * TMS (Tandem Mass Spectrometry): This is the primary method for screening for Inborn Errors of Metabolism (IEMs). TMS is highly sensitive and specific for detecting abnormal levels of various metabolites (amino acids, acylcarnitines, etc.) from a dried blood spot. * Conditions Screened (often part of an "11-condition" panel, with specific inclusions varying slightly by region): This typically includes a foundational set of treatable metabolic, endocrine, and other disorders. While the exact 11 conditions can vary, they often encompass conditions from the basic panel and a few additional ones: * Congenital Hypothyroidism (CH): TSH/T4 by FIA. * Congenital Adrenal Hyperplasia (CAH): 17-OHP by FIA. * G6PD Deficiency (Glucose-6-Phosphate Dehydrogenase Deficiency): Enzyme activity assay. * Galactosemia: Total galactose/Gal-1-P or GALT enzyme assay. * Biotinidase Deficiency: Biotinidase enzyme activity assay. * Cystic Fibrosis (CF): IRT with reflex DNA (CFTR mutations). * Phenylketonuria (PKU): Phenylalanine by TMS. * Maple Syrup Urine Disease (MSUD): Branched-chain amino acids by TMS. * Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCADD): Acylcarnitines by TMS. * Homocystinuria (HCY): Methionine/Homocysteine by TMS. * Tyrosinemia Type I (TYR I): Succinylacetone by TMS. (The specific additions beyond the "basic 7" often prioritize highly treatable and impactful IEMs that are well-detected by TMS). * Hemoglobinopathies (e.g., Sickle Cell Disease, Beta Thalassemia): These are screened using specialized methods to analyze the types and amounts of hemoglobin present in red blood cells. Common methods include: * HPLC (High-Performance Liquid Chromatography): Accurately separates and quantifies different hemoglobin variants (e.g., HbA, HbF, HbS, HbC, HbE). * IEF (Isoelectric Focusing): Separates hemoglobin variants based on their charge. * DNA Analysis (for confirmation): If abnormal hemoglobin variants are detected, molecular genetic testing (e.g., targeted PCR or sequencing of globin genes) may be performed for definitive diagnosis or carrier status confirmation, particularly for Thalassemia.
This multi-platform approach provides a robust and comprehensive screening for both metabolic and common hematological genetic disorders, crucial for timely intervention.
Sample Required
(The primary sample for TMS and many of the "11 conditions" is Dried Blood Spot (DBS), collected via a heel prick on a filter paper card. Whole Blood (WB) in EDTA is crucial for hemoglobinopathy screening (HPLC/IEF) and may also be used as a backup or for confirmatory tests for other conditions.)
Preparation
* Optimal Timing: The blood samples (DBS and WB EDTA) should ideally be collected between 24 to 72 hours (1-3 days) of the baby's life. * Adequate Milk Feeding: Ensure the baby has received at least 24 hours of adequate milk feeding (breast milk or formula) prior to blood sample collection. This is crucial for the accumulation of metabolites for TMS-based tests and reduces the chance of false-negative results. * Heel Prick Collection (DBS): A few drops of blood are collected via a gentle heel prick onto a special filter paper card (Guthrie card). Ensure complete saturation of the circles. * Venipuncture (WB EDTA): For the whole blood (EDTA) sample, standard venipuncture techniques should be used to collect the required volume. * No Fasting Required: Newborns should not be fasted for this test. * Parental Consent: Informed consent from parents is typically obtained. * Accurate Information: Record accurate demographic details, feeding status, and any medications taken by the mother during pregnancy or by the baby on the sample submission form. * Follow-up Plan: Parents should be informed about the expected turnaround time and the process for receiving results, including what happens if an "out-of-range" or "positive" screen result occurs (which requires urgent confirmatory testing).
Schedule Report
7 Days
Emergency Report
Yes
Frequently Asked Questions
What conditions does the Newborn Screening panel test for?
It screens for 11 serious but treatable conditions: Congenital Hypothyroidism, Congenital Adrenal Hyperplasia, PKU, MSUD, MCAD Deficiency, Galactosemia, Cystic Fibrosis, Biotinidase Deficiency, SCID, Sickle Cell Disease, and Thalassemia, along with hemoglobinopathies.
How is the sample collected for newborn screening?
A few drops of blood are collected from the baby's heel onto a special filter paper card (Dried Blood Spot). The sample is then analyzed using Tandem Mass Spectrometry and molecular methods.
Is fasting required for newborn screening?
No fasting is required. The heel prick sample is typically collected 24–48 hours after birth, once the baby has started feeding.
What do abnormal newborn screening results mean?
An abnormal or reactive result does not confirm a disease. It indicates the need for follow-up diagnostic testing. Early confirmation allows timely treatment and prevents severe complications.
How long does it take to receive newborn screening results?
Results are typically available within 3–5 working days. Parents are contacted immediately if any result requires urgent follow-up.
Can medications or feeding affect newborn screening results?
Certain medications, blood transfusions, or premature feeding can influence results. Inform the pediatrician about any recent treatments so the report can be interpreted accurately.
Test Description
Test Code
MOG46
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