New Born Screening NBS - 11 Conditions + Heamoglobinopathies
Test Code
MOG46
Also Known As
No data available
Test Parameters Included
No data available
Department
MOLECULAR GENETICS
Methodology
TMS (Tandem Mass Spectrometry) and other biochemical/molecular assays (e.g., HPLC, IEF, DNA analysis for Hemoglobinopathies)
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
Dried Blood Spot (DBS) / Whole Blood (WB) in EDTA Vacutainer
(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
Accurate timing and proper sample collection are vital for the reliability of this newborn screening panel. * Optimal Timing: The blood samples (DBS and WB EDTA) should ideally be collected between 24... Read more
Schedule Report
7 Days
Emergency Report
Yes
Frequently Asked Questions
No data available
Test Description
- High-end laboratory & medical equipment.
- Outstanding doctor team.
- Personalized care & high-quality service.
- Tailormade health screening packages.