Name of the Procedure:

Hearing Loss Genomic Sequence Analysis Panel

Summary

This procedure involves analyzing a person's genetic material to identify mutations or variants in at least 60 specific genes known to be associated with various forms of hearing loss, both nonsyndromic and syndromic (such as Usher syndrome and Pendred syndrome).

Purpose

The procedure aims to diagnose the genetic basis of hearing loss, which can aid in understanding the condition and guiding treatment and management strategies. It helps clinicians tailor interventions based on the underlying genetic cause.

Indications

• Patients with unexplained hearing loss
• Family history of hereditary hearing loss
• Clinical symptoms indicative of syndromic hearing loss (e.g., Usher syndrome, Pendred syndrome)
• Pre-surgical evaluation for cochlear implants

Preparation

• No specific preparation required for genomic sequencing.
• Patients may need to provide a family history of hearing loss.

Procedure Description

1. Sample Collection: A blood sample or saliva sample is collected from the patient.
2. DNA Extraction: DNA is extracted from the collected sample.
3. Sequencing: The extracted DNA undergoes high-throughput sequencing to analyze the targeted 60+ genes.
4. Data Analysis: Bioinformatics tools are used to interpret the sequence data, identifying any pathogenic variants.
5. Report Generation: A detailed report is compiled, outlining the findings and their clinical significance.

Duration

The analysis can take several weeks from sample collection to delivery of the final report.

Setting

The sample collection can be performed in a doctor's office or hospital. The actual genomic sequencing and analysis are conducted in a specialized laboratory.

Personnel

• Geneticist
• Laboratory technicians
• Clinician (to collect the sample and interpret results)

Risks and Complications

• Minimal risks associated with sample collection (e.g., slight bruising from a blood draw)
• No direct risks from the sequencing analysis itself

Benefits

• Precise genetic diagnosis of hearing loss
• Personalized treatment and management plans
• Informing family members about hereditary risks

Recovery

• No recovery period needed for the genetic testing procedure
• Post-result genetic counseling may be recommended

Alternatives

• Traditional audiometric tests (for assessing hearing function, not genetic basis)
• Imaging studies (e.g., MRI/CT scans) to identify structural causes of hearing loss
• Electrophysiological tests

Patient Experience

• Minimal discomfort during sample collection (similar to a routine blood draw or saliva collection)
• No pain or physical after-effects from the genomic sequencing process
• Genetic counseling to discuss the implications of the results