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Hereditary Organic Acidemias Gene Panel
₹ 19400
Hereditary Organic Acidemias Gene Panel
₹ 19400 ₹ 19400

Hereditary Organic Acidemias Gene Panel

Sample Type 51+ booked in last 3 days
Precaution
Sample Type
Swab
Precaution
Fasting
Yes
Precaution
Report
Within 4 Weeks

Hereditary Organic Acidemias Gene Panel Price

₹ 19400

Brief Details

Preparation
No special preparation required
Also Known As
Organic acidemia Gene Panel by NGS
Fasting
Fasting not required
Reporting Time
After 4 weeks
Purpose
To detect genetic mutations causing hereditary organic acidemias and support diagnosis, management, and family risk assessment

What is the Hereditary Organic Acidemias Gene Panel?

The Hereditary Organic Acidemias Gene Panel is a genetic blood test used to diagnose inherited metabolic disorders known as organic acidemias. These conditions occur when your body cannot properly break down certain proteins, fats, or carbohydrates, leading to the build up of toxic organic acids.

This test analyses multiple genes involved in metabolic pathways using advanced Next Generation Sequencing technology. It requires an EDTA blood sample and helps doctors confirm the exact genetic cause, guide treatment decisions, and assess risks for other family members.

What Does the Hereditary Organic Acidemias Gene Panel Measure?

This genetic test looks for disease causing changes in genes responsible for normal metabolic processes:

  • Detection of pathogenic variants causing different types of organic acidemias
  • Identification of inherited defects in amino acid, fatty acid, and energy metabolism
  • Differentiation of organic acidemias from other metabolic or neurological conditions
  • Support for diagnosis, prognosis assessment, and long term care planning
  • Guidance for genetic counselling, family screening, and prenatal evaluation

Hereditary Organic Acidemias Gene Panel: Who Needs It and Why It’s Done

What Symptoms May Call for a Hereditary Organic Acidemias Gene Panel?

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

  • Recurrent vomiting, poor feeding, or failure to thrive
  • Low blood sugar episodes or unexplained metabolic acidosis
  • Developmental delay or regression
  • Seizures or altered consciousness during illness or fasting
  • Liver enlargement or abnormal metabolic screening results

Who Should Get a Hereditary Organic Acidemias Gene Panel?

  • Infants or children with suspected inherited metabolic disorders
  • Individuals with abnormal newborn screening results
  • Patients with recurrent unexplained metabolic crises
  • Individuals with a family history of organic acidemias
  • Couples planning pregnancy with known genetic risk

Why is a Hereditary Organic Acidemias Gene Panel Done?

The test helps identify the exact genetic cause of organic acidemias, allowing early treatment, prevention of life threatening metabolic crises, and informed counselling for patients and families.

Importance of the Hereditary Organic Acidemias Gene Panel

Early and accurate diagnosis of organic acidemias is crucial, as these conditions can cause serious complications if untreated. This gene panel enables precise identification of the affected metabolic pathway, helping your doctor recommend appropriate dietary modifications, medications, and emergency care plans. It also supports long term monitoring and improves overall outcomes.

Hereditary Organic Acidemias Gene Panel Booking & Reports – Metropolis Healthcare

How to Book the Hereditary Organic Acidemias Gene Panel and Get Your Reports?

  1. Simple Online Booking
    Booking can be done through the Metropolis Healthcare App or website. Select the Hereditary Organic Acidemias Gene 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 Hereditary Organic Acidemias Gene Panel Available Near You?

Yes, Metropolis Healthcare offers home sample collection for the Hereditary Organic Acidemias Gene Panel. This service reduces the need for travel and ensures professional sample handling while maintaining strict quality standards.

How Long Does It Take to Get a Hereditary Organic Acidemias Gene 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 Hereditary Organic Acidemias Gene 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 Hereditary Organic Acidemias Gene Panel Results

What Your Hereditary Organic Acidemias Gene Panel Results May Indicate

Parameter Expected Finding Pathogenic Variant Detected May Indicate No Variant Detected May Indicate
Organic acidemia related genes No disease causing variant detected Hereditary organic acidemia affecting metabolic pathways Symptoms may be due to other metabolic or genetic conditions

Understanding Abnormal Hereditary Organic Acidemias Gene Panel Results by Parameter

Gene Group What a Pathogenic Variant May Indicate
BCKD and DBT genes Maple syrup urine disease and branched chain amino acid disorders
MUT, MMAA, MMAB genes Methylmalonic acidemia
PCCA, PCCB genes Propionic acidemia
GCDH, IVD, MCCC genes Other organic acidemias affecting energy metabolism
ETFA, ETFB, ETFDH Multiple acyl CoA dehydrogenase deficiency

How Should You Prepare for a Hereditary Organic Acidemias Gene Panel?

This genetic test requires minimal preparation. Please follow these instructions:

  • No fasting required: You can eat and drink normally before the test
  • Normal hydration: Maintain your usual fluid intake
  • Medication details: Inform your doctor about all medicines or supplements you take
  • Clinical history: Share previous metabolic test results and family history
  • Consent forms: Ensure the test requisition form and genetic history details are completed

How Is a Hereditary Organic Acidemias Gene 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 organic acidemias.

Conditions That May Affect Hereditary Organic Acidemias Gene Panel Accuracy

Certain patient related factors may influence test interpretation:

  • Recent blood transfusion may affect genetic analysis
  • Incomplete or inaccurate clinical history can limit interpretation
  • Mosaic genetic changes may be difficult to detect
  • Variants of uncertain significance may require additional family studies

Diseases That a Hereditary Organic Acidemias Gene Panel Can Help Detect

  • Methylmalonic acidemia
  • Propionic acidemia
  • Maple syrup urine disease
  • Isovaleric acidemia
  • Glutaric acidemia
  • Multiple acyl CoA dehydrogenase deficiency
  • Other inherited organic acidemias

References

  1. Wilcken B., Haas M., Joy P., et al. (2007). Expanded newborn screening: outcome in screened and unscreened patients. Pediatrics, 119(2), e411–e418. PMID: 17272626
  2. Vockley J., Ensenauer R. (2006). Isovaleric acidemia: new aspects of genetic and phenotypic heterogeneity. American Journal of Medical Genetics, 142C(2), 95–103. PMID: 16856143
  3. Baumgartner M.R., Hörster F., Dionisi-Vici C., et al. (2014). Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia. Orphanet Journal of Rare Diseases, 9, 130. PMID: 25107915
  4. Sass J.O., Walter M., Skladal D., et al. (2004). Disorders of mitochondrial fatty acid oxidation and related metabolic pathways. Journal of Inherited Metabolic Disease, 27(5), 675–687. PMID: 15505385

Frequently asked questions

Find quick answers to the most common questions about health tests, bookings, and reports.

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Common signs include irritability, trouble sleeping, headaches, difficulty concentrating, and muscle tension.

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Ratings & Reviews

We're satisfying our customers every day since 1980.

Morning given the samples in Ayanavaram branch got the report by 12.30pm it's fast and efficient delivery by mail and want to tell about the staff they are very professional and friendly definitely I will recommend my friends and family to metropolis labs

Prabhu Gopalakrishnan. 5

The Home Service was excellent. Medical Technician took samples at 7:00am and returned at 9:30 after breakfast to take further samples. The results were sent by email at 6pm. The whole experience was excellent, professional and well organised. Will certainly recommend the home service for convenience

Chris Bessell 5

Excellent service - I was able to request services late at night (9pm) and the technician was at my door at 7:30am the next morning. The services were highly affordable and convenient. I live in the US and the US could learn a lot from Metropolis!!!

Sharmila Vaishnav. 5

Very good staff, excellent execution of samples, timely results even before promised time. professional and well organised. Will certainly recommend the home service for convenience

Ishwarakrishnan. 4

Very good staff, excellent execution of samples, timely results even before promised time. professional and well organised. Will certainly recommend the home service for convenience

Ishwarakrishnan. 4

Very good staff, excellent execution of samples, timely results even before promised time. professional and well organised. Will certainly recommend the home service for convenience

Ishwarakrishnan. 4

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Precision
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  • Real-time tracking of phlebotomist arrival and report generation
  • Fully digital report delivery—view from mobile or desktop instantly
  • Continuous monitoring of turnaround times to ensure accuracy and speed
  • Dedicated support team to resolve any delays or queries quickly

Why Metropolis Healthcare?

Metropolis has been present for over 40 years in the market.

Metropolis has a team of 200 senior pathologists and over 2000 technicians delivering diagnostic solutions in the areas of routine, semi specialty and super specialty domains like Oncology, Neurology, Gynaecology, Nephrology and many more.

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Metropolis Healthcare is a leading diagnostic service provider in India. We are a team of dedicated professionals committed to ensuring you and your family receive the most accurate and timely healthcare solutions. We believe in making health care accessible, affordable and evidence-based. Our expert panel are equipped with the latest technology and manned by a certified team of over 4000+ technicians.

In diagnostic services, we have more than three decades of experience servicing diverse stakeholders health advantage packages for men, women and seniors, genetic fitness & corporation in over 650+ tests like Oncology, Neurology, Gynaecology, Haematology, and many more. Our diagnostic services are located in leading doctors and clinics and serve over 15+ cities in India.

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