Disorders of carbohydrate metabolism gene panel

Disorders of Carbohydrate Metabolism – Gene Panel

Test Overview
The Disorders of Carbohydrate Metabolism Gene Panel is a comprehensive molecular genetic test designed to identify pathogenic variants in genes associated with inherited disorders affecting carbohydrate digestion, transport, storage, utilization, and energy metabolism.

Clinical Indications

• Unexplained recurrent hypoglycemia or hyperglycemia
• Failure to thrive or poor growth
• Hepatomegaly or unexplained liver dysfunction
• Exercise intolerance, muscle weakness, or recurrent rhabdomyolysis
• Metabolic acidosis or unexplained metabolic crises
• Abnormal carbohydrate tolerance or persistent biochemical abnormalities
• Suspected glycogen storage disease or congenital metabolic disorder
• Family history of an inherited carbohydrate metabolism disorder
• Early-onset or unexplained multisystem disease

Disorders Covered May Include

• Glycogen storage diseases
• Galactosemia
• Hereditary fructose intolerance
• Disorders of fructose metabolism
• Disorders of glucose transport and utilization
• Congenital disorders of glycogen metabolism
• Pentose phosphate pathway disorders
• Other inherited disorders affecting carbohydrate metabolism

Genes Analysed
The panel includes clinically relevant genes associated with inherited carbohydrate metabolism disorders. The exact gene list may vary according to the laboratory's validated panel.

Methodology
Next-Generation Sequencing (NGS) with bioinformatic analysis for detection of relevant sequence variants. Depending on the panel and laboratory validation, deletion/duplication analysis may also be included.

Sample Type
Peripheral blood in EDTA tube.

Result Interpretation
Variants are classified according to established clinical guidelines and interpreted in correlation with the patient's clinical presentation, biochemical findings, and family history.

Clinical Utility

• Supports diagnosis of inherited metabolic disorders
• Helps identify the molecular cause of unexplained metabolic abnormalities
• Enables targeted clinical management and monitoring
• Facilitates genetic counselling and family testing
• May support prenatal or reproductive risk assessment in appropriate families

Important Note
A negative result does not completely exclude a genetic disorder. Some variants or genomic alterations may not be detectable by the testing methodology used. Results should be interpreted along with clinical and biochemical findings.