New Born Screening NBS - TMS 52+111 Conditions on GCMS+11 Conditions
Also Known As
Test Parameters Included
- Newborn Screening Panel - TMS (Tandem Mass Spectrometry) for 52 Metabolic Conditions including amino acid disorders, organic acidemias, and fatty acid oxidation defects
- GCMS (Gas Chromatography-Mass Spectrometry) for 11 Additional Conditions including certain organic acidurias and carbohydrate metabolism disorders
- Pathologist Molecular Genetics Remark - correlated against neonatal reference intervals and clinical correlation advised
Department
Methodology
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
(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
* Timing: The blood spot sample (DBS) is typically collected between 24 to 72 hours of age, ideally after 24 hours of milk feeding (breast milk or formula), to ensure accurate metabolic measurements. If collected too early, some conditions may be missed.
* Feeding: Ensure the baby has had adequate feeding (breast milk or formula) before blood collection, as feeding stimulates metabolism and is crucial for detecting many metabolic disorders.
* Sample Collection: * Dried Blood Spot (DBS): A small heel prick is performed to collect a few drops of blood onto a special filter paper card (Guthrie card). It's crucial that the blood spots completely fill the designated circles on the card and saturate through to the back.
* Whole Blood (EDTA): If required for specific molecular or hematologic tests (e.g., DNA for CF, hemoglobinopathies), a small volume of venous blood may be collected in an EDTA tube.
* Urine Sample: For GCMS, a clean-catch urine sample is collected in a sterile container.
* Parental Information: Accurate demographic information for the baby and parents, including contact details, feeding status (breastfed/formula), and any medications taken by the mother during pregnancy or by the baby, should be provided on the sample submission form.
* Follow-up: Parents should be informed about the test and how results will be communicated. It is vital to respond promptly to any calls from the screening program, as an "out-of-range" or "positive" screen result requires immediate follow-up and confirmatory testing.
Schedule Report
7 Days
Emergency Report
Yes
Frequently Asked Questions
What conditions does this newborn screening test detect?
This comprehensive panel screens for 52 metabolic conditions using Tandem Mass Spectrometry (TMS) including PKU, MCAD deficiency, and galactosemia, plus 11 additional conditions via GCMS such as maple syrup urine disease and methylmalonic acidemia.
When should newborn screening be performed?
Ideally between 24 to 72 hours of life after adequate protein feeding. If discharged earlier, a repeat test at 1–2 weeks is recommended to catch conditions that may not yet show elevated markers.
What sample is required for this test?
A Dried Blood Spot (DBS) card is the primary sample, collected via heel prick. Whole blood in EDTA and urine may also be accepted depending on the laboratory protocol and clinical indication.
Is fasting required for newborn screening?
No, fasting is not required. In fact, the baby should be feeding normally (at least 2–3 feeds) before the blood spot is collected to ensure accurate detection of metabolic disorders.
How long does it take to get the report?
Reports are typically available within 24–48 hours. Abnormal or reactive screens are communicated immediately to the pediatrician or parents for urgent follow-up.
What happens if the screening result is abnormal?
A reactive screen does not confirm a disease. It indicates the need for prompt confirmatory testing, which may include repeat DBS, quantitative plasma amino acids, acylcarnitine profile, urine organic acids, or genetic testing.
Test Description
Test Code
MOG35
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