Ashkenazi Jewish associated disorders (eg, Bloom syndrome, Canavan disease, cystic fibrosis, familial dysautonomia, Fanconi anemia group C, Gaucher disease, Tay-Sachs disease), genomic sequence analysis panel, must include sequencing of at least 9 genes,
CPT4 code
Name of the Procedure:
Ashkenazi Jewish Associated Disorders Genomic Sequence Analysis Panel
Summary
This genomic sequence analysis involves testing for multiple genetic disorders that are notably more common in people of Ashkenazi Jewish descent. The procedure entails sequencing at least 9 specific genes to identify any mutations that might be responsible for disorders like Bloom syndrome, Canavan disease, cystic fibrosis, familial dysautonomia, Fanconi anemia group C, Gaucher disease, and Tay-Sachs disease.
Purpose
The primary goal of this procedure is to screen for genetic mutations associated with inherited disorders prevalent among those of Ashkenazi Jewish ancestry. By identifying these mutations early, the procedure facilitates proactive medical management, genetic counseling, and informed family planning.
Indications
- Individuals of Ashkenazi Jewish descent with a family history of genetic disorders.
- Couples planning to have children who want to assess the risk of passing on genetic conditions.
- Individuals experiencing symptoms consistent with any of the associated genetic disorders.
Preparation
- No special preparation is typically required.
- Patients may be advised to provide a family medical history.
- Genetic counseling may be recommended before and after the procedure.
Procedure Description
- Sample Collection: A blood or saliva sample is taken from the patient.
- DNA Extraction: DNA is extracted from the collected sample.
- Sequencing: The DNA is then sequenced using advanced genomic technologies, focusing on at least 9 specific genes known to be linked with the disorders.
- Analysis: The genetic sequence is analyzed for mutations or abnormalities.
- Results Interpretation: Geneticists or healthcare providers interpret the results, which are then shared with the patient.
Duration
The sample collection takes about 10-15 minutes. The entire process, including analysis and interpretation, usually takes several weeks.
Setting
The sample collection is typically performed in an outpatient clinic or hospital. The sequencing and analysis take place in a specialized laboratory.
Personnel
- Phlebotomist or medical technician (for sample collection)
- Laboratory geneticist
- Genetic counselor
- Healthcare provider (e.g., geneticist, primary care physician)
Risks and Complications
- Mild discomfort or bruising at the site of blood sample collection.
- Emotional or psychological impact from learning about genetic risks, which can be managed with appropriate counseling.
Benefits
- Early identification of genetic risks for inherited disorders.
- Informed decision-making for family planning.
- Proactive health management and targeted medical intervention.
Recovery
- There is no physical recovery period as it is a non-invasive procedure.
- Patients may have follow-up appointments for discussion of results and genetic counseling.
Alternatives
- Single-gene testing for specific disorders based on family history.
- Expanded carrier screening panels that include a broader range of genetic conditions.
- Each alternative has various pros and cons related to cost, comprehensiveness, and specificity.
Patient Experience
- During the procedure, patients may experience minor discomfort during blood sample collection.
- After the procedure, patients might feel anxious while waiting for the results; support through genetic counseling can help manage this anxiety.
- Results will provide valuable insight, aiding in medical and personal decision-making.