Disorders of Vitamins and Cofactor Metabolism – Gene Panel

Test Overview

The Disorders of Vitamins and Cofactor Metabolism Gene Panel is a comprehensive genetic test designed to identify pathogenic variants in genes involved in the absorption, transport, activation, utilization, recycling, and metabolism of vitamins and essential metabolic cofactors.

Clinical Indications

This panel may be considered for individuals with:

• Unexplained metabolic abnormalities
• Developmental delay or intellectual disability
• Neurological symptoms, seizures, or hypotonia
• Growth failure or recurrent unexplained illness
• Hematological abnormalities suggestive of vitamin-related disorders
• Unexplained anemia or megaloblastic changes
• Abnormal organic acid or metabolic screening results
• Suspected inherited vitamin/cofactor deficiency despite adequate nutritional intake
• Family history of an inherited metabolic disorder
• Consanguinity with suggestive clinical features

Conditions Covered

Depending on the genes included in the panel, testing may help evaluate inherited disorders involving:

• Vitamin B1 (Thiamine) metabolism
• Vitamin B2 (Riboflavin) metabolism
• Vitamin B6 (Pyridoxine) metabolism
• Vitamin B7 (Biotin) metabolism
• Vitamin B9 (Folate) metabolism
• Vitamin B12 (Cobalamin) metabolism
• Vitamin C metabolism
• Vitamin D metabolism
• Vitamin K metabolism
• Vitamin E metabolism
• Coenzyme and metabolic cofactor pathways
• Intracellular vitamin transport and processing
• Cofactor biosynthesis and recycling pathways

Sample

• Peripheral blood in EDTA tube

Methodology

• Next-Generation Sequencing (NGS)
• Variant analysis and interpretation
• Depending on the test design, deletion/duplication analysis may also be included.

Clinical Utility

Identification of the underlying genetic cause can support:

• Accurate diagnosis
• Early intervention and targeted management
• Appropriate vitamin/cofactor supplementation when indicated
• Prevention of complications
• Genetic counselling
• Family screening and cascade testing

Interpretation

Variants are classified according to established clinical variant-interpretation guidelines. Genetic findings should be interpreted alongside clinical features, biochemical investigations, and family history.