Pathogenic Variant Detected (Biallelic)

Confirms a diagnosis of Methylmalonic Aciduria CblJ Type. Two pathogenic or likely pathogenic variants were identified in the ABCD4 gene in a trans configuration. Clinical management including cobalamin supplementation, dietary modification, and monitoring should be initiated. Genetic counselling for the family is recommended.

Likely Pathogenic Variant Detected (Biallelic)

Strongly suggestive of Methylmalonic Aciduria CblJ Type. Two likely pathogenic variants were found. Clinical correlation with biochemical findings and family segregation studies are recommended to confirm the diagnosis.

Single Pathogenic or Likely Pathogenic Variant Detected (Heterozygous)

The individual is a carrier of one mutant allele. A second variant may be present in regions not covered by this test (e.g., deep intronic, regulatory, or large structural variants). Additional testing such as deletion/duplication analysis or Sanger sequencing may be warranted. Clinical correlation is advised.

Variant of Uncertain Significance (VUS) Detected

A variant was identified in the ABCD4 gene, but its clinical significance cannot be determined at this time. Further family studies, functional assays, and clinical correlation are recommended. The variant should be reclassified as more evidence becomes available.

No Pathogenic Variant Detected

No pathogenic or likely pathogenic variants were identified in the ABCD4 gene coding region and flanking intronic sequences. Methylmalonic Aciduria CblJ Type is unlikely but cannot be fully excluded as this test may not detect large deletions, deep intronic variants, or regulatory region mutations. If clinical suspicion remains high, additional metabolic and genetic testing should be considered.