Glycogen Storage Disorders Panel, Sequencing

Casandra

Casandra Test Code AR74957Version 1 (DRAFT)

Performing Lab

Lab ARUP LaboratoriesLab Test ID 3001627CPT Codes 81403, 81404, 81405, 81406, 81407, 81479

Glycogen Storage Disorders Panel, Sequencing

Also known as: GSD NGS

Clinical Use

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Use

Glycogen storage diseases (GSD) are a group of inborn errors of metabolism caused by enzyme defects, leading to the accumulation of glycogen in the liver, muscles, and other organs. This test is used to confirm the diagnosis of GSD or related disorders by identifying pathogenic germline variants in specific genes associated with these conditions. Clinical features of GSD include hepatomegaly, hypoglycemia, slow growth, cardiomyopathy, and muscle weakness, among others. The test covers a wide range of genes known to be associated with glycogen storage diseases and other disorders with similar clinical presentations.

Special Instructions

Not provided.

Limitations

The test detects variants within the coding regions and intron-exon junctions of the targeted genes. Regulatory region variants and deep intronic variants will not be identified. Additionally, deletions/duplications/insertions of any size may not be detected reliably with massively parallel sequencing. The test may not detect low-level mosaic or somatic variants. It does not analyze noncoding transcripts, and certain genomic regions may be excluded due to technical limitations, such as repetitive or homologous regions. Interpretation may be impacted if the patient has undergone allogeneic stem cell transplantation. Specific exons in genes ENO3, OXCT1, and PFKM are not covered by the test due to these limitations.

Test Details