New Born Screening NBS - TMS 52+111 Conditions on GCMS+11 Conditions
Test Code
MOG35
Also Known As
No data available
Test Parameters Included
No data available
Department
MOLECULAR GENETICS
Methodology
TMS/GCMS : Tandem Mass Spectrometry (TMS) / Gas Chromatography-Mass Spectrometry (GCMS) / Other biochemical assays (e.g., Enzyme Immunoassays, Fluorometric Assays)
This comprehensive newborn screening test utilizes a multi-platform approach to detect a broad spectrum of metabolic, endocrine, hematologic, and other genetic disorders. The primary methodologies include:
* Tandem Mass Spectrometry (TMS): This is the core technology for screening a large number of metabolic disorders (typically 50+ conditions) by analyzing amino acids, acylcarnitines, and succinylacetones from dried blood spots (DBS). TMS can detect conditions like amino acidemias (e.g., PKU, MSUD), organic acidemias, and fatty acid oxidation disorders.
* Gas Chromatography-Mass Spectrometry (GCMS): Used to detect additional metabolites, particularly in urine samples, to identify organic acidurias and other specific metabolic conditions that might complement TMS findings or capture conditions not well-detected by TMS alone.
* Other Biochemical Assays: For the remaining 11 conditions (and some of the 52+111), various other specialized biochemical assays are employed. These can include:
* Enzyme Immunoassays (EIA) or Fluorometric Assays: For conditions like Congenital Hypothyroidism (TSH, T4), Congenital Adrenal Hyperplasia (17-OHP), Biotinidase Deficiency, Galactosemia, G6PD Deficiency.
* Molecular/PCR-based tests: For conditions like Cystic Fibrosis (IRT, followed by DNA if elevated), SCID (TRECs), Pompe disease (lysosomal enzyme activity).
* Hemoglobin Analysis (e.g., HPLC, IEF): For hemoglobinopathies like Sickle Cell Disease and Thalassemia.
The exact combination and number of conditions detected can vary slightly between laboratories and national screening programs, but this description indicates a very extensive panel.
Sample Required
DBS/WB EDTA & URINE : Dried Blood Spot (DBS) / Whole Blood (WB) in EDTA Vacutainer & Urine
(This comprehensive test requires multiple sample types for optimal screening: Dried Blood Spot (typically collected on Guthrie cards from a heel prick) for TMS and many biochemical assays, Whole Blood in EDTA for certain molecular or hematologic tests, and Urine for GCMS analysis of specific metabolites.)
Preparation
Preparation for newborn screening is generally straightforward and involves proper timing and sample collection. * Timing: The blood spot sample (DBS) is typically collected between 24 to 72 hours of ... 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.