New Born Screening NBS - 7 Conditions (Basic Panel) - Fluoroimmunoassay
Also Known As
Test Parameters Included
- Newborn Screening Panel — 7 Condition Basic Panel (FIA-based)
- Pathologist Genetics & Metabolic Remark — mapped against age-specific neonatal reference intervals
Department
Methodology
This "Basic Panel" for newborn screening primarily utilizes Fluoroimmunoassay (FIA) and other established biochemical or enzymatic assays. These methods are chosen for their ability to accurately and efficiently detect specific biomarkers from dried blood spot (DBS) samples, enabling the early identification of critical treatable conditions.
* Fluoroimmunoassay (FIA): This is a highly sensitive and specific immunoassay that uses fluorescence to detect and quantify specific substances (analytes) in a sample. It works by using antibodies labeled with fluorescent tags. When the labeled antibodies bind to the target analyte, a fluorescent signal is produced, which can be measured. FIA is commonly used for: * Congenital Hypothyroidism (CH): Measuring Thyroid Stimulating Hormone (TSH) and/or Thyroxine (T4) levels. High TSH and/or low T4 are indicative of CH. * Congenital Adrenal Hyperplasia (CAH): Measuring 17-hydroxyprogesterone (17-OHP) levels. Elevated 17-OHP suggests CAH. * Phenylketonuria (PKU): Measuring Phenylalanine levels. High phenylalanine suggests PKU.
* Other Biochemical/Enzymatic Assays: For the remaining conditions, specific enzymatic reactions or biochemical measurements are performed: * G6PD Deficiency (Glucose-6-Phosphate Dehydrogenase Deficiency): Typically measured by assessing G6PD enzyme activity in the red blood cells, often using a quantitative enzymatic assay that measures the production of NADPH. * Galactosemia: Measured by detecting elevated total galactose or galactose-1-phosphate (Gal-1-P) in blood, or by assessing the activity of the Galactose-1-Phosphate Uridyltransferase (GALT) enzyme. * Biotinidase Deficiency: Measured by assessing biotinidase enzyme activity, often using a fluorometric or colorimetric enzymatic assay. * Cystic Fibrosis (CF): Often initially screened by measuring Immunoreactive Trypsinogen (IRT) levels. If IRT is elevated, a second-tier test (often DNA analysis for common CFTR gene mutations) may be performed as part of the screening protocol.
These methods are well-established, validated, and widely used in newborn screening programs due to their accuracy and high throughput capabilities.
Sample Required
(The primary sample type for this basic newborn screening panel is Dried Blood Spot (DBS), collected via a heel prick on a special filter paper card. Whole Blood (WB) in EDTA may sometimes be requested as a backup or for specific confirmatory tests depending on the lab's protocol, but the initial screening is performed on DBS.)
Preparation
* Optimal Timing: The Dried Blood Spot (DBS) sample should ideally be collected between 24 to 72 hours (1-3 days) of the baby's life. * Adequate Milk Feeding: It is important that the baby has received at least 24 hours of adequate milk feeding (breast milk or formula) prior to blood sample collection. Feeding activates the metabolic pathways necessary for the accumulation of metabolites, which helps in detecting certain conditions accurately and reduces the chance of false-negative results. * Heel Prick Collection: A few drops of blood are collected via a gentle heel prick onto a special filter paper card (Guthrie card). It's crucial that the circles on the card are fully saturated and blood soaks through to the back. * No Fasting Required: Newborns should not be fasted for this test. * Parental Consent: Informed consent from parents is typically obtained. * Accurate Information: Ensure accurate demographic details, feeding status, and any relevant clinical information are recorded on the sample submission form.
Schedule Report
7 Days
Emergency Report
Yes
Frequently Asked Questions
What conditions are included in the 7-condition basic newborn screen?
The panel typically screens for Congenital Hypothyroidism (CH), Congenital Adrenal Hyperplasia (CAH), Sickle Cell Disease, Phenylketonuria (PKU), Galactosemia, MCADD (Medium-chain acyl-CoA dehydrogenase deficiency), and Biotinidase Deficiency.
When should the newborn screening be performed?
Ideally between 48 hours and 7 days of life. If done before 48 hours, a repeat sample is recommended at 7 days to avoid false negatives.
Is fasting required for newborn screening?
No, fasting is not required. The test is performed on a dried blood spot collected via heel prick from the newborn.
What does an abnormal newborn screening result mean?
An abnormal (reactive) result is a screening indicator, not a diagnosis. It requires prompt confirmatory testing such as quantitative hormone assays, enzyme studies, or genetic testing to establish a definitive diagnosis.
How long does it take to receive the newborn screening report?
Reports are typically available within 24–48 hours from sample receipt. Verified PDF reports can be accessed via www.drpatholab.in or WhatsApp/Email.
Can medications or feeding affect the newborn screening results?
Yes, certain medications, blood transfusions, or premature feeding can influence results. Inform the lab if the newborn has received transfusions or is on special medications to ensure accurate interpretation.
Test Description
Test Code
MOG45
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