Description of Symptoms: Begin with a thorough clinical assessment of the patient. Document detailed information about the symptoms, medical history, family history, and any relevant clinical observations.

Decide on the most suitable sequencing method based on the clinical question, the suspected genetic basis of the disease, and available resources. Options include whole-genome sequencing (WGS) or whole-exome sequencing (WES), among others.

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Identify genetic variations (mutations) in the patient's DNA by comparing it to a reference genome. This involves detecting single nucleotide variations (SNVs), insertions, deletions, and other structural variations.

Prioritize variants based on their association with known disease genes or pathways. Tools and databases that curate disease-related genetic information can assist in this step.

Compile a comprehensive report summarizing the genetic findings, their potential implications for the patient's health, and recommendations for further clinical management or confirmatory testing