IEM Plus: TMS 49 Disorders + GCMS Urine Organic Acids Confirmatory (both) Test
About IEM Plus: TMS 49 Disorders + GCMS Urine Organic Acids Confirmatory (both) Test
| Field | Value |
|---|---|
| Also Known As | IEM Plus Panel, Extended Newborn Screening (TMS + GCMS), Comprehensive Metabolic Screening, Tandem Mass Spectrometry with Urine Organic Acids Confirmatory Test |
| Sample Type | Dried Blood Spot (heel prick on filter paper) and Urine (random sample in sterile container) |
| Fasting Required | No. For newborns, the sample is collected 24 to 72 hours after birth, ideally after a few feeds |
| Report Time | 4 Days |
| Recommended For | Newborns (within 24 to 72 hours of birth), infants and children with suspected metabolic disorders, and those with a family history of inborn errors of metabolism |
| Price | Starting at ₹7,500 |
What is an IEM Plus: TMS 49 Disorders + GCMS Urine Organic Acids Confirmatory (both) Test?
The IEM Plus: TMS 49 Disorders + GCMS Urine Organic Acids Confirmatory (both) Test is a two-part metabolic screening panel designed to detect inherited metabolic disorders in newborns and infants.
The first part uses tandem mass spectrometry (TMS) on a dried blood spot to screen for 49 disorders. The second part uses gas chromatography-mass spectrometry (GCMS) on a urine sample to confirm and expand findings by measuring organic acids.
Also known as the IEM Plus Panel or Extended Newborn Screening, this test is one of the most thorough metabolic screening options available.
What Does an IEM Plus: TMS 49 Disorders + GCMS Urine Organic Acids Confirmatory (both) Test Measure?
This panel combines two advanced laboratory methods to screen across several categories of inherited metabolic conditions. The table below summarises what each part evaluates.
| Component | What is Measured | Why it Matters |
|---|---|---|
| Amino acids (TMS) | Levels of specific amino acids in blood | Elevated or reduced levels point to amino acid disorders such as phenylketonuria or maple syrup urine disease |
| Acylcarnitines (TMS) | Fatty acid breakdown products in blood | Abnormal patterns suggest fatty acid oxidation disorders or organic acid conditions |
| Urine organic acids (GCMS) | Accumulation of organic acids in urine | Detects a broad range of metabolic disorders, including organic acidaemias and urea cycle defects |
The categories covered include amino acid disorders, organic acid disorders, fatty acid oxidation disorders, and urea cycle disorders.
Why is an IEM Plus: TMS 49 Disorders + GCMS Urine Organic Acids Confirmatory (both) Test Done?
Doctors recommend this panel when there is a clinical reason to screen for or confirm inborn errors of metabolism (IEM), which are inherited conditions affecting the body's ability to process certain nutrients.
Common Symptoms That May Require This Test
The following signs in a newborn or infant may prompt a doctor to order this screening:
- Poor feeding or refusal to feed
- Persistent vomiting without an obvious cause
- Unusual lethargy or low muscle tone
- Seizures in the newborn period
- Altered consciousness or signs of brain dysfunction (encephalopathy)
- Metabolic acidosis (too much acid building up in the blood)
- Unexplained coma in a young infant
Conditions This Test Can Help Detect
This panel can help identify a wide range of inherited metabolic conditions, including:
- Amino acid disorders such as phenylketonuria and maple syrup urine disease
- Organic acid disorders such as methylmalonic acidaemia, propionic acidaemia, and glutaric aciduria type I
- Fatty acid oxidation disorders such as MCAD deficiency, VLCAD deficiency, and carnitine deficiency
- Urea cycle disorders, which affect the body's ability to remove ammonia
IEM Plus: TMS 49 Disorders + GCMS Urine Organic Acids Confirmatory (both) Test for Chronic Disease Monitoring
For children already diagnosed with an inborn error of metabolism, this panel can be used periodically to track how well treatment is working.
Monitoring frequency varies by condition, ranging from monthly to quarterly for disorders such as phenylketonuria and methylmalonic acidaemia. Early and consistent monitoring helps prevent further complications.
How to Prepare and What to Expect
Preparation for this test is straightforward and non-invasive. The steps differ slightly depending on whether a blood spot or a urine sample is being collected.
Do You Need to Fast?
No fasting is required. For newborns, the sample is ideally collected after a few feeds, as this improves the accuracy of results. Collecting the blood spot too early (before 24 hours of age) may affect the reliability of findings.
Practical Tips Before Your Test
Keep the following in mind before sample collection:
- Bring a detailed clinical history, including symptoms, previous test results, and family history, as this is required for the test
- The blood spot is ideally taken 24 to 72 hours after birth; earlier collection may require a repeat test
- For urine collection, ensure the baby is well-hydrated
- Collect the urine sample in a clean container without any preservatives
- Inform the healthcare provider about any medications, dietary supplements, or intravenous feeding the baby is receiving
- If collecting at home, freeze the urine sample as soon as possible and keep it cold during transport
Step-by-Step Procedure
Blood Spot Collection:
- The heel is warmed with a warm, damp cloth to increase blood flow, and the leg is held lower than the heart.
- The skin is cleaned with an alcohol wipe and allowed to dry completely.
- A small, quick prick is made on the baby's heel, and a few drops of blood are collected onto the marked circles on a special filter card (Guthrie card).
- The blood spots are allowed to air-dry at room temperature before being sent to the laboratory.
Urine Collection:
- For newborns, special filter paper is placed in the baby's nappy and checked every 30 minutes to confirm that urine has been absorbed. Alternatively, a sterile container is used to collect a random urine sample (at least 5 ml).
- Both samples are packaged and shipped to the laboratory under refrigeration for TMS and GCMS analysis.
Factors That Can Affect Accuracy
Several factors can influence the reliability of results:
- Collection too early (before 24 hours after birth) or during illness recovery, when abnormal metabolites may have cleared
- Prematurity, which can shift normal reference ranges
- Parenteral nutrition (intravenous feeding), which alters metabolite profiles
- Recent blood transfusions
- Certain medications or dietary supplements
- Improper storage or delay in freezing the urine sample
- Sample contamination
Understanding Your IEM Plus: TMS 49 Disorders + GCMS Urine Organic Acids Confirmatory (both) Test Results
Results are typically reported as Normal, Borderline, or Abnormal, with specific metabolite patterns identified. A specialist will review these patterns in the context of your child's clinical picture.
| Parameter Category | Normal Result | Possible Concern If Abnormal |
|---|---|---|
| Amino acids | Within laboratory cut-off values | Elevated levels may suggest amino acid disorders |
| Acylcarnitines | Within laboratory cut-off values | Abnormal patterns may indicate fatty acid oxidation or organic acid disorders |
| Urine organic acids | No diagnostic abnormalities detected | Accumulation of specific acids may indicate organic acidaemias or urea cycle defects |
| Carnitine levels | Within reference range | Low levels may suggest carnitine deficiency |
Disclaimer: These ranges are general guidelines. Your doctor will interpret your results based on your child's age, health history, and other factors. Always consult a qualified healthcare professional for personalised medical advice.
Results During Special Conditions
Certain situations can affect how results are interpreted:
- If sampling is done during recovery from an acute illness, abnormal metabolites may no longer be detectable, leading to a false-normal result.
- In premature infants, reference ranges differ from those of full-term newborns, and results must be read accordingly.
- Parenteral (intravenous) nutrition can alter organic acid and acylcarnitine profiles, making interpretation more complex.
How to Maintain Healthy Levels
These tips are relevant for families of children who have been diagnosed with a metabolic disorder:
- Follow the dietary plan prescribed by the metabolic specialist carefully, as dietary compliance directly affects metabolite levels.
- Attend all scheduled follow-up appointments for repeat testing and monitoring.
- Avoid prolonged fasting in infants and children with a known or suspected metabolic disorder, as this can trigger a metabolic crisis.
Lupin Diagnostics IEM Plus: TMS 49 Disorders + GCMS Urine Organic Acids Confirmatory (both) Test Price and Home Collection
The IEM Plus: TMS 49 Disorders + GCMS Urine Organic Acids Confirmatory (both) Test cost at Lupin Diagnostics starts at ₹7,500, with home sample collection available across cities.
| City | Approximate Price (₹) |
|---|---|
| Mumbai | 7500 |
| Pune | 7500 |
| Bangalore | 7500 |
| Chennai | 7500 |
Disclaimer: Prices are indicative and may vary by location. Please confirm the current price at the time of booking.
How to Book
- Select the IEM Plus: TMS 49 Disorders + GCMS Urine Organic Acids Confirmatory (both) Test on the Lupin Diagnostics website.
- Choose your city and preferred time slot.
- Opt for home sample collection by a certified phlebotomist, or visit your nearest Lupin Diagnostics centre.
- Receive your report via email or WhatsApp within the stipulated turnaround time.
Home Collection
IEM Plus: TMS 49 Disorders + GCMS Urine Organic Acids Confirmatory (both) Test home collection is available across multiple cities. A trained phlebotomist visits your home to collect the dried blood spot and urine sample using the correct materials. All samples are processed in NABL-accredited laboratories, and digital reports are shared securely once ready.
Frequently Asked Questions
TMS analyses amino acids and acylcarnitines in dried blood spots to screen for 49 metabolic disorders quickly. GCMS then examines organic acids in urine to confirm any abnormal findings and detect a broader range of conditions. Together, they provide a far more complete picture than either method alone.
The blood spot collected via the IEM Plus: TMS 49 Disorders + GCMS Urine Organic Acids Confirmatory (both) Test procedure provides a rapid first-level screen. The urine sample, analysed by GCMS, acts as a confirmatory step. Using both samples together improves diagnostic accuracy and allows faster clinical decisions.
The ideal window for blood spot collection is 24 to 72 hours after birth, once the baby has had several feeds. Collecting the sample before 24 hours increases the chance of missing abnormal metabolites. If collected very early, a repeat sample is often recommended.
An abnormal result does not confirm a diagnosis on its own. It indicates that further investigation is needed, including repeat metabolic testing, genetic or molecular analysis, and a consultation with a metabolic specialist or paediatric geneticist. Your doctor will guide you through the next steps.
This panel is most commonly done in the newborn period, but it can also be ordered for older infants and children who show symptoms suggesting an inborn error of metabolism, or who have a family history of a known metabolic disorder.
Yes. You can book the test through the Lupin Diagnostics website by selecting the test, choosing your city and time slot, and opting for home collection or a centre visit. The process is straightforward and can be completed in a few minutes.
Results for the combined TMS and GCMS panel are typically available within 4 days from the date of sample collection. You will receive your digital report via email or WhatsApp.
IEM Plus: TMS 49 Disorders + GCMS Urine Organic Acids Confirmatory (both) Test
