Sickle Cell Mutation Test | Lahalak Platform
A precise genetic analysis to identify sickle cell mutations, aiding in informed family planning and early detection of carriers to ensure a healthy and safe future.
Scientific name: Sickle Cell Anemia Mutation Test (HBB) C.20A>T
The sickle cell anemia mutation test (HBB gene, c.20A>T) is a molecular genetic test that aims to detect a specific point mutation (adenine-thymine substitution at position 20 of exon 1) in the beta-globin (HBB) gene on chromosome 11. This mutation is responsible for the production of hemoglobin S (HbS) instead of normal hemoglobin A. When an indiv...
Service type
Genetic test (Blood)
Duration
10-15 minutes
Fasting
Fasting is not required
Included Services
- Accurate genetic analysis to detect the c.20A>T point mutation (also called GAG>GTG) in the HBB gene using techniques such as PCR and DNA sequencing.
- Determining the patient's genotype (healthy, carrier, sick).
- Consultation regarding the interpretation of results and genetic counseling with a hematologist or genetic counselor.
- Personal support services from Halak.
Medical Service Information
Conditions & Notices
- Fasting is not required. The sample is collected from blood or an oral swab (depending on the laboratory).
- No other special preparations are required before the examination.
- Discussing genetic counseling before or after testing is highly recommended, especially for couples, to understand the test results and their implications for family planning.
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