MODY and Neonatal Diabetes Panel, Sequencing

Casandra

Casandra Test Code AR75817Version 1 (DRAFT)

Performing Lab

Lab ARUP LaboratoriesLab Test ID 3001593CPT Codes 81403, 81404, 81405, 81406, 81479

MODY and Neonatal Diabetes Panel, Sequencing

Also known as: MODY NGS

Clinical Use

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Use

The MODY and Neonatal Diabetes Panel, Sequencing is employed to confirm a diagnosis of maturity-onset diabetes of the young (MODY) or neonatal diabetes in symptomatic individuals. It is also used for predictive diagnostic or carrier testing in individuals with a family history of these conditions. The panel identifies pathogenic germline variants in numerous genes involved with these forms of diabetes, helping in both diagnosis and risk assessment.

Special Instructions

For New York state clients, specimens must be sent to a New York state-approved laboratory. Informed consent for genetic testing and a MODY and Neonatal Diabetes Patient History Form are required when ordering this test for New York patients.

Limitations

The test detects variants within coding regions and intron-exon boundaries of targeted genes. Variants in regulatory regions, deep intronic areas, and large deletions/duplications will not be identified. There are limitations in detecting certain variants due to technical constraints such as pseudogenes, repetitive or homologous regions. Diagnostic errors can occur due to rare sequence variations. The test is not intended to detect low-level mosaicism, somatic mutations, gene conversion events, complex inversions, translocations, mitochondrial DNA variants, or repeat expansions. Noncoding transcripts are not analyzed. Some exons of indicated genes like CEL and ABCC8 are not covered fully by sequencing.

Test Details