Metabolic Disorder Gene Panel Test: Booking, Price, and Results
About Metabolic Disorder Gene Panel Test: Booking, Price, and Results
| Field | Value |
|---|---|
| Also Known As | Inborn errors of metabolism (IEM) gene panel, Inherited metabolic disorders gene panel, IEM gene panel, inherited metabolic disorders (IMD) genetic testing panel |
| Sample Type | Chorionic villus (CVS), amniotic fluid, cord blood, peripheral blood |
| Fasting Required | No |
| Report Time | 30 Days |
| Recommended For | All ages; newborns, infants, children, and adults with suspected inherited metabolic disorders |
| Price | Starting at ₹42,000 |
What Is a Metabolic Disorder Gene Panel Test?
The metabolic disorder gene panel test is a specialised genetic test that examines hundreds of genes linked to inherited disorders of metabolism. Metabolism refers to the chemical processes the body uses to convert food into energy. . It may also be known as the inborn errors of metabolism (IEM) gene panel, or inherited metabolic disorders (IMD) genetic testing panel. This test is typically ordered when a doctor suspects an inherited metabolic condition based on symptoms, family history, or abnormal biochemical screening results
What Does a Metabolic Disorder Gene Panel Test Measure?
This test uses next-generation sequencing (NGS) technology to examine a large set of genes simultaneously. It identifies different types of genetic changes that can disrupt normal metabolic functions. The gene categories covered include:
| Gene Category | What It Measures |
|---|---|
| Aminoacidopathies | Genes affecting the body's ability to process amino acids (building blocks of protein). |
| Organic acidurias | Genes linked to build-up of organic acids in the body. |
| Urea cycle disorders | Genes involved in removing ammonia, a waste product, from the body. |
| Lysosomal storage disorders | Genes affecting the cell's waste disposal system. |
| Fatty acid oxidation | Genes that control how the body burns fat for energy. |
| Glycogen storage disorders | Genes involved in how the body stores and uses sugar. |
| Mitochondrial disorders | Genes that affect the cell's energy production machinery. |
| Peroxisomal disorders | Genes linked to fatty acid breakdown in a specific cell compartment. |
The test detects single nucleotide variants (single-letter changes in DNA), insertions and deletions (small added or missing DNA pieces), and copy number alterations (larger gains or losses of DNA segments).
Why Is a Metabolic Disorder Gene Panel Test Done?
A doctor may recommend the metabolic disorder gene panel test when a patient shows signs that could point to an inherited metabolic condition, or when there is a relevant family history.
Common Symptoms That May Require This Test
The following symptoms may prompt a doctor to order this test:
- Developmental delay or intellectual disability
- Seizures or abnormal involuntary movements
- Recurring episodes of altered consciousness or extreme lethargy.
- Persistent or recurrent vomiting, particularly in newborns or infants.
- Unusual odour in urine, sweat, or breath
- Poor growth, poor appetite, or unexplained weight loss.
- Muscle cramps or persistent fatigue
Conditions This Test Can Help Detect
This test can help identify a wide range of inherited metabolic conditions, including:
- Phenylketonuria (PKU), a disorder affecting the breakdown of an amino acid called phenylalanine.
- Maple syrup urine disease (MSUD), named for the distinctive sweet smell of affected patients' urine.
- Urea cycle disorders, which cause dangerous ammonia build-up in the blood.
- Gaucher disease, niemann-Pick disease, and krabbe disease (lysosomal storage disorders).
- Tay-Sachs disease and metachromatic leukodystrophy.
- Wilson's disease, which causes copper accumulation in organs.
- Mitochondrial encephalopathy (MELAS), affecting brain and muscle function.
- Organic acidaemias and disorders of carbohydrate metabolism.
How to Prepare and What to Expect
The test procedure involves specialised sample collection and laboratory analysis. No extensive physical preparation is needed, but providing thorough clinical information is essential.
Do You Need to Fast?
No, fasting is not required for this test. You may eat and drink normally before your appointment.
Practical Tips Before Your Test
Please keep the following in mind before attending your appointment:
- Bring a detailed clinical history including your symptoms, previous test results, and family history, as as this will help in the interpretation of your results.
- Note any family history of metabolic disorders, unexplained childhood deaths, or consanguinity (marriage between close relatives), as this information is important for accurate interpretation.
- Inform your doctor of all medications and supplements you are currently taking.
- Genetic counselling is strongly recommended before the test to understand its scope, limitations, and implications.
Step-by-Step Procedure
The sample collection process depends on the type of sample your doctor recommends. Below are the procedures for each applicable sample type.
Peripheral Blood:
- A healthcare professional cleans a vein on your arm and draws a small blood sample into a sterile collection tube.
- The sample is labelled clearly with your details and stored under refrigeration (2 to 8 degrees Celsius).
- The sample is dispatched to the Lupin Diagnostics specialised laboratory for processing.
- In the lab, DNA is extracted from the blood cells and all relevant gene regions are captured and sequenced using NGS technology.
- Trained geneticists and bioinformatics specialists analyse the results and prepare a detailed report.
- Your report is delivered within 30 days.
Chorionic Villus (CVS), Amniotic Fluid, or Cord Blood:
- These samples are collected by a qualified medical specialist in a clinical setting, using sterile procedures appropriate to each sample type.
- The collected sample (minimum 30 mg for CVS) is placed in a sterile container and stored under refrigeration.
- The labelled sample is transported promptly to the laboratory.
- DNA is extracted and the same NGS sequencing and analysis process is applied.
- The final genetic report is issued within 30 days.
Factors That Can Affect Accuracy
The following factors may influence the quality or interpretation of results:
- Insufficient sample volume or poor sample quality.
- Incomplete clinical history or missing family history information.
- Improper sample labelling or storage during transport.
- Inadequate DNA quantity extracted from the sample.
Understanding Your Metabolic Disorder Gene Panel Test Results
Your results should always be reviewed with a qualified doctor or genetic counsellor who can place them in the context of your full clinical picture. Unlike routine blood tests, this test does not produce numerical values. Instead, any genetic variants found are classified using the following five-tier system:
| Classification | Significance |
|---|---|
| Pathogenic | The variant is confirmed as disease-causing |
| Likely Pathogenic | The variant is very likely disease-causing |
| Variant of Uncertain Significance (VUS) | There is not enough evidence to classify the variant as harmful or harmless |
| Likely Benign | The variant is very likely not disease-causing |
| Benign | The variant is confirmed as not disease-causing |
A negative result (no pathogenic variants detected) does not fully exclude a metabolic disorder if clinical suspicion remains high, as some variants may not be detectable by current technology. A VUS finding does not confirm a diagnosis. Scientific understanding of VUS classifications continues to evolve, and a VUS may be reclassified over time as more research becomes available.
These ranges are general guidelines. Your doctor will interpret your results based on your age, health history, and other factors. Always consult a qualified healthcare professional for personalised medical advice.
How to Maintain Healthy Levels
Because this is a genetic test, results are not influenced by lifestyle. However, the following steps support overall wellbeing and informed health management:
- Attend regular follow-ups with a metabolic specialist or medical geneticist if a condition is identified.
- Seek post-test genetic counselling to understand your results and any implications for family members.
- Follow any dietary or medical recommendations given by your treating doctor for a diagnosed condition.
Lupin Diagnostics Metabolic Disorder Gene Panel Test Price
The metabolic disorder gene panel test starts at ₹42,000 at Lupin Diagnostics. This test requires a visit to a Lupin Diagnostics centre or coordination with a specialist for appropriate sample collection. Home collection is not available for this test.
| City | Approximate Price (₹) |
|---|---|
| BHOPAL | 42000 |
| CHENNAI | 42000 |
| HYDERABAD | 42000 |
| KOLKATA | 42000 |
| NAVI MUMBAI | 42000 |
| PUNE | 42000 |
Prices are indicative and may vary by location. Please confirm the current price at the time of booking.
How to Book
Follow these steps to book your test online or at a centre:
- Select the test on the Lupin Diagnostics website.
- Choose your city and preferred centre location.
- Visit the centre at your scheduled time for sample collection.
- Receive your report via email or WhatsApp within the stipulated turnaround time.
Frequently Asked Questions
The metabolic disorder gene panel test is used to identify inherited conditions that affect how the body processes nutrients and produces energy. It is ordered when a doctor suspects a genetic metabolic disorder based on symptoms, abnormal biochemical tests, or a relevant family history.
This test is suitable for newborns, infants, children, and adults who show signs of a possible inherited metabolic disorder. It is also relevant for individuals who have a family history of such conditions, or for families where a previous child has been diagnosed with a metabolic disease.
A VUS is a genetic change for which there is currently insufficient scientific evidence to determine whether it causes disease or not. It does not confirm a diagnosis. Your doctor may recommend periodic re-evaluation, as the classification of a VUS can change as research advances.
Yes. NGS-based gene panels can be used as a diagnostic tool in newborns, particularly when initial biochemical screening suggests a possible inherited metabolic condition. The appropriate sample type will be determined by your doctor.
Yes, genetic counselling is strongly recommended both before and after the metabolic disorder gene panel test. A genetic counsellor can help you understand what the test covers, what different results might mean, and the implications for other family members.
No. Newborn screening tests are biochemical tests that check metabolic markers in blood. The metabolic disorder gene panel is a genetic test that directly examines the DNA for disease-causing variants. It is often used to confirm or investigate results from biochemical screening, or to identify a specific genetic cause when screening alone is inconclusive.
Metabolic Disorder Gene Panel Test: Booking, Price, and Results
