Disorders of fatty acid, ketone and energy metabolism

Disorders of Fatty Acid, Ketone and Energy Metabolism – Gene Panel

Overview
This genetic panel evaluates genes associated with inherited disorders affecting fatty acid oxidation, ketone body metabolism, mitochondrial energy production, and cellular energy pathways. These conditions may impair the body’s ability to generate energy, particularly during fasting, illness, prolonged exercise, or other metabolic stress.

Conditions Covered

• Fatty acid oxidation disorders
• Carnitine transport and metabolism disorders
• Medium-, long-, and very-long-chain fatty acid oxidation defects
• Ketone body synthesis and utilization disorders
• Mitochondrial energy metabolism disorders
• Organic acid and related energy metabolism defects
• Disorders of cellular energy production
• Selected metabolic myopathies and recurrent rhabdomyolysis-related disorders

Common Clinical Indications

• Recurrent unexplained hypoglycemia
• Hypoketotic hypoglycemia
• Unexplained metabolic acidosis
• Recurrent vomiting or lethargy during illness or fasting
• Exercise intolerance or muscle weakness
• Recurrent rhabdomyolysis
• Unexplained cardiomyopathy
• Hepatomegaly or liver dysfunction
• Sudden unexplained metabolic decompensation
• Suspected inherited metabolic disease
• Family history of a metabolic disorder or unexplained sudden death

What the Test Helps With

• Identification of disease-causing genetic variants
• Confirmation of a suspected inherited metabolic disorder
• Differentiation between clinically overlapping metabolic conditions
• Guiding further biochemical and clinical evaluation
• Supporting individualized management and genetic counselling
• Assessing familial risk where appropriate

Sample: EDTA Whole Blood
Method: Next-Generation Sequencing (NGS), with variant analysis and interpretation.
Reporting: Clinically significant pathogenic/likely pathogenic variants are interpreted according to established guidelines. Depending on the panel design, additional variant types may require complementary testing.

Important: A genetic result should be interpreted along with clinical findings and biochemical investigations by a qualified clinician/genetic counsellor.