HEXA (hexosaminidase A [alpha polypeptide]) (eg, Tay-Sachs disease) gene analysis, common variants (eg, 1278insTATC, 1421+1G>C, G269S)
CPT4 code
Name of the Procedure:
HEXA (hexosaminidase A [alpha polypeptide]) Gene Analysis, Common Variants (e.g., 1278insTATC, 1421+1G>C, G269S)
Summary
The HEXA gene analysis tests for specific genetic variants linked to Tay-Sachs disease, a hereditary disorder affecting nerve cells. This procedure involves examining the HECA gene to identify mutations that can cause the disease.
Purpose
The procedure aims to diagnose Tay-Sachs disease by identifying mutations in the HEXA gene. Early detection allows for better management of the disease and informed family planning decisions.
Indications
- Family history of Tay-Sachs disease
- Symptoms suggestive of Tay-Sachs, such as muscle weakness or developmental delays.
- Preconception and prenatal testing for at-risk couples.
Preparation
- No special preparations are usually required, but consult your healthcare provider.
- Blood or saliva sample collection may be involved; follow any specific instructions provided by your healthcare team.
Procedure Description
- A blood or saliva sample is collected from the patient.
- The genetic material is extracted from the sample.
- Laboratory analysis is performed to detect the presence of common HEXA gene variants.
- Results are interpreted by a genetic specialist.
Duration
The sample collection takes only a few minutes. Results can typically be available within a few weeks.
Setting
The sample collection is generally performed at a hospital, outpatient clinic, or specialized genetic testing facility.
Personnel
- Geneticist or genetic counselor
- Nurse or phlebotomist for sample collection
- Laboratory technicians
Risks and Complications
- Minimal risks associated with blood draw (e.g., slight pain, bruising).
- Emotional impact of test results.
Benefits
- Accurate diagnosis of Tay-Sachs disease.
- Informed medical care and family planning.
- Understanding carrier status to inform reproductive choices.
Recovery
- No physical recovery needed.
- Emotional support or genetic counseling may be beneficial following the results.
Alternatives
- Prenatal diagnostic testing (like amniocentesis) for at-risk pregnancies.
- Preimplantation genetic diagnosis (PGD) during IVF for at-risk couples.
- Each alternative has its own set of risks and benefits which should be discussed with a healthcare provider.
Patient Experience
Patients will experience minimal discomfort during the sample collection. The emotional impact varies; genetic counseling can help manage emotions associated with the results.