New Born Screening NBS - 7 Conditions (Basic Panel) - Fluoroimmunoassay
Test Code
MOG45
Also Known As
No data available
Test Parameters Included
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Department
MOLECULAR GENETICS
Methodology
Fluoroimmunoassay (FIA) and other biochemical/enzymatic assays
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
Dried Blood Spot (DBS) / Whole Blood (WB) in EDTA Vacutainer
(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
Proper timing and sample collection are essential for obtaining accurate newborn screening results. * Optimal Timing: The Dried Blood Spot (DBS) sample should ideally be collected between 24 to 72 hou... Read more
Schedule Report
7 Days
Emergency Report
Yes
Frequently Asked Questions
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Test Description
- High-end laboratory & medical equipment.
- Outstanding doctor team.
- Personalized care & high-quality service.
- Tailormade health screening packages.