Hereditary retinal disorders (eg, retinitis pigmentosa, Leber congenital amaurosis, cone-rod dystrophy), genomic sequence analysis panel, must include sequencing of at least 15 genes, including ABCA4, CNGA1, CRB1, EYS, PDE6A, PDE6B, PRPF31, PRPH2, RDH12,
CPT4 code
Name of the Procedure:
Hereditary Retinal Disorders Genomic Sequence Analysis Panel
Summary
This diagnostic procedure involves analyzing the genetic sequence of at least 15 genes linked to hereditary retinal disorders, such as retinitis pigmentosa, Leber congenital amaurosis, and cone-rod dystrophy. The analysis helps identify genetic mutations that could be the cause of these conditions.
Purpose
The procedure is designed to identify genetic mutations responsible for inherited retinal disorders. The goal is to provide an accurate diagnosis, inform prognosis, guide treatment strategies, and offer genetic counseling for patients and their families.
Indications
- Symptoms like night blindness, loss of peripheral vision, or complete vision loss.
- Family history of hereditary retinal disorders.
- Recommendations from a genetic counselor or ophthalmologist after a clinical examination.
Preparation
- No special preparation, such as fasting, is required.
- Patients may need to provide a detailed family medical history.
- Informed consent is obtained after explaining the procedure and its implications.
Procedure Description
- Sample Collection: A blood sample or a buccal swab is collected from the patient.
- DNA Extraction: DNA is isolated from the collected sample.
- Genomic Sequencing: The DNA is sequenced to identify mutations in the specified genes (including ABCA4, CNGA1, CRB1, EYS, PDE6A, PDE6B, PRPF31, PRPH2, and RDH12).
- Data Analysis: Genetic data is analyzed using specialized software to detect variations.
- Interpretation: A geneticist reviews and interprets the results, along with clinical information.
Duration
The entire process, from sample collection to results, typically takes 4-8 weeks.
Setting
The sample collection is done in a healthcare setting (hospital, outpatient clinic), and the genomic analysis is conducted in a specialized laboratory.
Personnel
- Geneticist
- Ophthalmologist
- Trained technician for sample collection and processing
- Genetic counselor
Risks and Complications
- Minimal physical risks associated with sample collection (e.g., minor discomfort or bruising from blood draw).
- Emotional or psychological impact from learning about genetic conditions.
Benefits
- Accurate diagnosis of the specific hereditary retinal disorder.
- Informed decisions about treatment and management.
- Access to genetic counseling for family planning and understanding disease prognosis.
- Potential eligibility for clinical trials or therapies targeting specific genetic mutations.
Recovery
- No physical recovery is needed from the sample collection.
- Follow-up appointments may be scheduled to discuss results and treatment plans.
Alternatives
- Clinical examination and non-genetic tests (ophthalmic imaging, visual field tests).
- Alternative genetic tests targeting fewer genes or specific mutations.
- Genetic testing of family members to identify carriers.
Patient Experience
- During the procedure: Mild discomfort while collecting blood or buccal swab.
- After the procedure: No physical discomfort; patient may experience anxiety while awaiting results.
- Support: Genetic counseling is provided to help understand and cope with the results.