Maple syrup urine disease Gene Panel by NGS, EDTA Blood**

What is the Amino Acid Disorder Gene Panel / MSUD Panel?

The Amino Acid Disorder Gene Panel, also known as the Maple Syrup Urine Disease panel, is a genetic blood test used to diagnose MSUD. MSUD is a rare inherited metabolic condition in which the body is unable to properly break down certain amino acids, namely leucine, isoleucine, and valine.

This test analyses multiple genes involved in branched chain amino acid metabolism using Next Generation Sequencing technology. It requires an EDTA blood sample and helps doctors confirm the diagnosis, guide treatment decisions, and assess genetic risk for family members.

What Does the Amino Acid Disorder Gene Panel / MSUD Panel Measure?

This genetic test evaluates changes in genes responsible for amino acid breakdown and energy metabolism:

• Detection of disease causing variants linked to maple syrup urine disease
• Differentiation of MSUD from other metabolic encephalopathies
• Identification of inherited risk for metabolic crises during illness or fasting
• Support for long term dietary planning and treatment strategies
• Guidance for genetic counselling, family screening, and prenatal evaluation

Amino Acid Disorder Gene Panel / MSUD Panel: Who Needs It and Why It’s Done

What Symptoms May Call for an Amino Acid Disorder Gene Panel / MSUD Panel?

Doctors may recommend this test if you or your child experience symptoms such as:

• Poor feeding, vomiting, or lethargy in newborns
• Developmental delay or regression
• Seizures or abnormal muscle tone
• Episodes of altered consciousness or coma
• A characteristic sweet or maple syrup like odour in urine

Who Should Get an Amino Acid Disorder Gene Panel / MSUD Panel?

• Newborns with abnormal metabolic screening results
• Infants or children with suspected inherited amino acid disorders
• Individuals with recurrent unexplained metabolic crises
• Patients with a family history of maple syrup urine disease
• Couples planning a pregnancy with known genetic risk

Why is an Amino Acid Disorder Gene Panel / MSUD Panel Done?

The test helps confirm the genetic cause of maple syrup urine disease, enabling early treatment, prevention of life threatening metabolic episodes, and informed family planning.

Importance of the Amino Acid Disorder Gene Panel / MSUD Panel

Early diagnosis of MSUD is critical because untreated disease can lead to severe neurological damage or death. This gene panel allows precise identification of the underlying genetic defect, helping your doctor initiate timely dietary management, monitor metabolic stability, and reduce the risk of acute metabolic decompensation. It also supports long term care planning and family counselling.

Amino Acid Disorder Gene Panel / MSUD Panel Booking & Reports – Metropolis Healthcare

How to Book the Amino Acid Disorder Gene Panel / MSUD Panel and Get Your Reports?

1. Simple Online Booking
   Booking can be done through the Metropolis Healthcare App or website. Select the Amino Acid Disorder Gene Panel or MSUD Panel, choose a convenient time slot, and provide your address for a blood test at home. You may also visit a nearby Metropolis Lab if you prefer in person sample collection.
2. Safe Home Sample Collection
   Trained phlebotomists collect your blood sample while strictly following safety and hygiene protocols.
3. Sample Tracking Updates
   You receive updates at every stage, from sample collection to testing, through the Metropolis Healthcare platform.
4. Accurate Laboratory Testing
   Your sample is processed at NABL and CAP accredited laboratories using advanced molecular diagnostic technology.
5. Quick and Easy Reports
   Your reports are shared via email, WhatsApp, or can be downloaded from the Metropolis Healthcare website or app.

Is Home Sample Collection for Amino Acid Disorder Gene Panel / MSUD Panel Available Near You?

Yes, Metropolis Healthcare offers home sample collection for the Amino Acid Disorder Gene Panel or MSUD Panel. This service saves you time, reduces the need for travel, and ensures professional sample handling while maintaining strict quality standards.

How Long Does It Take to Get an Amino Acid Disorder Gene Panel / MSUD Panel Report?

Reports are usually available after 4 weeks once the sample reaches the lab.
Note: Reporting time may vary based on your location.

Where Can I See or Get Amino Acid Disorder Gene Panel / MSUD Panel Results?

1. Metropolis Healthcare website or mobile app
   You can access your test results through the Metropolis Healthcare website or mobile app using your login credentials.
2. Email or WhatsApp
   Reports are also shared via email or WhatsApp.
3. Physical copy from the lab
   You may collect a physical copy directly from the Metropolis Lab if required.

Interpreting Amino Acid Disorder Gene Panel / MSUD Panel Results

What Your Amino Acid Disorder Gene Panel / MSUD Panel Results May Indicate

Understanding Abnormal Amino Acid Disorder Gene Panel / MSUD Panel Test Results

How Should You Prepare for an Amino Acid Disorder Gene Panel / MSUD Panel?

This genetic test requires minimal preparation. Please keep the following points in mind:

• No fasting required: You can eat and drink normally unless advised otherwise by your doctor
• Normal hydration: Continue your usual fluid intake
• Medication information: Inform your doctor about all medicines or supplements you are taking
• Clinical history: Share relevant medical and family history to support accurate interpretation
• Consent and forms: Ensure the test requisition form and genetic history details are completed

How Is an Amino Acid Disorder Gene Panel / MSUD Panel Done? (Step-by-Step Procedure)

The test is performed using a simple blood collection process:

• Preparation: A tourniquet is tied around your arm to make veins more visible.
• Cleaning: The puncture site is cleaned with antiseptic.
• Sample Collection: A sterile needle is used to draw about 3 to 5 ml of blood into an EDTA vacutainer.
• Completion: The needle is removed, and a bandage is applied.
• Processing: The sample is analysed using Next Generation Sequencing to identify gene mutations linked to maple syrup urine disease.

Conditions That May Affect Amino Acid Disorder Gene Panel / MSUD Panel Accuracy

Certain patient related factors may influence test interpretation:

• Recent blood transfusion may affect genetic analysis
• Incomplete or incorrect clinical history can limit interpretation
• Mosaic genetic changes may be harder to detect in some individuals
• Variants of uncertain significance may require further family testing

Diseases That an Amino Acid Disorder Gene Panel / MSUD Panel Can Help Detect

• Maple syrup urine disease
• Branched chain amino acid metabolism disorders
• Inherited metabolic encephalopathies

References

1. Chuang D.T., Shih V.E., Max Wynn R. (2006). Maple syrup urine disease (branched chain ketoacid dehydrogenase deficiency). Current Molecular Medicine, 6(5), 537–546. PMID: 16918370
2. Strauss K.A., Puffenberger E.G., Robinson D.L., Morton D.H. (2009). Type I maple syrup urine disease: A model metabolic disorder. Molecular Genetics and Metabolism, 98(1–2), 3–11. PMID: 19608456
3. Simon E., Fingerhut R., Baumkötter J., et al. (2006). Maple syrup urine disease: Favourable effect of early diagnosis by newborn screening on the neonatal course of the disease. Journal of Inherited Metabolic Disease, 29(4), 532–537. PMID: 16972195
4. Nellis M.M., Danner D.J. (2001). Gene preference in maple syrup urine disease. American Journal of Human Genetics, 68(1), 232–237. PMID: 11085915
5. Zinnanti W.J., Lazovic J., Griffin K., et al. (2009). Dual mechanism of brain injury and novel treatment strategy in maple syrup urine disease. Brain, 132(4), 903–918. PMID: 19286687