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Fatty Acid Oxidation Disorder Gene Panel
₹ 19400
Fatty Acid Oxidation Disorder Gene Panel
₹ 19400 ₹ 19400

Fatty Acid Oxidation Disorder Gene Panel

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

Fatty Acid Oxidation Disorder Gene Panel Price

₹ 19400

Brief Details

Preparation
No special preparation required
Also Known As
Fatty acid oxidation disorders Gene Panel by NGS
Fasting
Fasting not required
Reporting Time
After 4 weeks
Purpose
To detect genetic mutations causing fatty acid oxidation disorders and support diagnosis, management, and family screening

What is the Fatty Acid Oxidation Disorder Gene Panel?

The Fatty Acid Oxidation Disorder Gene Panel is a genetic blood test that helps identify inherited conditions affecting how your body breaks down fats to produce energy. These conditions are known as fatty acid oxidation disorders and can cause serious health problems, particularly during fasting, illness, or physical stress.

This test analyses multiple genes involved in fatty acid metabolism using Next Generation Sequencing technology. It requires an EDTA blood sample and helps doctors confirm a diagnosis, plan treatment, and assess genetic risk for family members.

What Does the Fatty Acid Oxidation Disorder Gene Panel Measure?

This genetic test evaluates changes in genes responsible for fat metabolism to support accurate diagnosis and long term care planning:

  • Detection of gene mutations linked to fatty acid oxidation disorders
  • Differentiation of FAODs from other metabolic or mitochondrial conditions
  • Identification of inherited risk for metabolic crises during fasting or illness
  • Support for dietary planning and medical management
  • Guidance for genetic counselling, family screening, and prenatal evaluation

Fatty Acid Oxidation Disorder Gene Panel: Who Needs It and Why It’s Done

What Symptoms May Call for a Fatty Acid Oxidation Disorder Gene Panel?

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

  • Recurrent episodes of low blood sugar, especially during fasting
  • Muscle weakness, muscle pain, or breakdown after illness or exercise
  • Poor feeding, vomiting, or extreme tiredness in infants
  • Enlarged liver or abnormal liver function tests
  • Sudden weakness, seizures, or altered consciousness

Who Should Get a Fatty Acid Oxidation Disorder Gene Panel?

  • Infants or children suspected of having inherited metabolic disorders
  • Individuals with repeated unexplained metabolic crises
  • Patients with abnormal newborn screening results suggestive of FAOD
  • Individuals with a family history of fatty acid oxidation disorders
  • Couples planning a pregnancy with known genetic risk

Why is a Fatty Acid Oxidation Disorder Gene Panel Done?

The test helps identify the genetic cause of fatty acid oxidation disorders, allowing early treatment, prevention of serious complications, and informed family planning.

Importance of the Fatty Acid Oxidation Disorder Gene Panel

Early diagnosis of fatty acid oxidation disorders is essential, as untreated conditions can lead to life threatening metabolic episodes. This gene panel allows precise identification of the underlying genetic defect, helping your doctor recommend personalised dietary strategies, medications, and lifestyle adjustments. It also supports long term disease management and reduces the risk of sudden health emergencies.

Fatty Acid Oxidation Disorder Gene Panel Booking & Reports – Metropolis Healthcare

How to Book the Fatty Acid Oxidation Disorder Gene Panel and Get Your Reports?

  1. Simple Online Booking
    Booking can be done through the Metropolis Healthcare App or website. Select the Fatty Acid Oxidation Disorder 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 Fatty Acid Oxidation Disorder Gene Panel Available Near You?

Yes, Metropolis Healthcare offers home sample collection for the Fatty Acid Oxidation Disorder Gene 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 a Fatty Acid Oxidation Disorder 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 Fatty Acid Oxidation Disorder 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 details.
  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 Fatty Acid Oxidation Disorder Gene Panel Results

What Your Fatty Acid Oxidation Disorder Gene Panel Results May Indicate

Parameter Expected Finding Pathogenic Variant Detected May Indicate No Variant Detected May Indicate
FAOD related genes No disease causing variant detected A fatty acid oxidation disorder affecting energy metabolism Symptoms may be due to other metabolic conditions or genetic causes not covered by this panel

Understanding Abnormal Fatty Acid Oxidation Disorder Gene Panel Test Results

Gene Group What a Pathogenic Variant May Indicate
ACAD and HAD genes Disorders affecting fatty acid breakdown within mitochondria
CPT and SLC genes Defects in fatty acid transport into mitochondria
ETF related genes Multiple acyl CoA dehydrogenase deficiency
HMGCL and HMGCS2 Ketone body synthesis disorders affecting energy availability

How Should You Prepare for a Fatty Acid Oxidation Disorder Gene Panel?

This genetic test requires minimal preparation. Please keep the following 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 for accurate interpretation
  • Consent and forms: Ensure the test requisition form and genetic history details are completed

How Is a Fatty Acid Oxidation Disorder 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 fatty acid oxidation disorders.

Conditions That May Affect Fatty Acid Oxidation Disorder Gene 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 a Fatty Acid Oxidation Disorder Gene Panel Can Help Detect

  • Medium chain acyl CoA dehydrogenase deficiency
  • Very long chain acyl CoA dehydrogenase deficiency
  • Carnitine transporter deficiency
  • Carnitine palmitoyltransferase deficiencies
  • Multiple acyl CoA dehydrogenase deficiency
  • Other inherited fatty acid oxidation disorders

References

  1. Spiekerkoetter U., Lindner M., Santer R., et al. (2009). Management and outcome in 75 individuals with long chain fatty acid oxidation defects. European Journal of Pediatrics, 168(9), 1131–1140. PMID: 19148775
  2. Wilcken B., Haas M., Joy P., et al. (2007). Outcome of neonatal screening for medium chain acyl CoA dehydrogenase deficiency in Australia. Journal of Pediatrics, 151(2), 151–155. PMID: 17643767
  3. Knottnerus S.J.G., Bleeker J.C., Wüst R.C.I., et al. (2018). Disorders of mitochondrial long chain fatty acid oxidation and the carnitine shuttle. Reviews in Endocrine and Metabolic Disorders, 19(1), 93–106. PMID: 29344865

Frequently asked questions

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

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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

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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

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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

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