Alpha Thalassemia

This test checks for common deletion mutations like -a3.7, -a4.2, --SEA, --FIL, --THAI in Alpha Thalassemia. Detecting these mutations helps identify the risk of developing this genetic blood disorder early, guiding appropriate treatment and management.

This test is done primarily:

• To rule out the presence of Alpha Thalassemia in individuals
• To assess the risk of passing on the genetic mutation to offspring
• To provide genetic counselling for families with a history of thalassemia
• To guide treatment decisions and monitoring for individuals with diagnosed Alpha Thalassemia

This test is recommended for:

• Individuals with a family history of Alpha Thalassemia
• Couples planning a pregnancy to understand their genetic risk
• Pregnant women to determine the risk of passing on Alpha Thalassemia
• People with symptoms suggestive of thalassemia like fatigue, weakness, pale skin, or bone deformities

• Abnormal results may suggest carriers or individuals affected by Alpha Thalassemia.
• Abnormal results require further testing and consultation with your doctor for confirmation and guidance on treatment and management.

During this test:

• A small blood sample collection takes place ideally after consultation with your doctor.
• The sample is analysed in a laboratory using a method called GAP PCR for detecting specific genetic mutations associated with Alpha Thalassemia.

Before the test:

• Ensure you have details regarding your clinical/family history available.
• Discuss any medications you are taking that might affect the test results with your doctor.
• Provide any previous relevant reports such as CBC findings or HPLC reports for comprehensive evaluation.

Reach out to your healthcare provider for specific requirements.

Other tests that may be suggested along with the Alpha Thalassemia Screening Test include:

• Haemoglobin Electrophoresis: Identifies different types of haemoglobin in the blood.
• Complete Blood Count (CBC): Measures various components of your blood like red blood cells, white blood cells, and platelets.

Alpha Thal Test or α-Thal Test or α-Thal Genetic Testing

Alpha Thalassemia is an inherited blood disorder where the body does not produce enough haemoglobin, leading to anaemia and other complications. This condition results from genetic mutations impacting haemoglobin production. People with less severe forms of this disorder (alpha thalassemia silent carrier or trait) usually lead a normal life.

The alpha-thalassaemia by PCR test is a molecular diagnostic test that detects mutations or deletions in the alpha-globin genes using real-time polymerase chain reaction (PCR) followed by melting curve analysis or DNA sequencing. This test helps diagnose alpha-thalassaemia and identify carriers.

Yes, many diagnostic centers offer home sample collection, including Metropolis Healthcare, for the alpha-thalassaemia by PCR test. This convenient service allows you to provide a blood sample from the comfort of your home, making it easier to undergo this important genetic test.

In the alpha-thalassaemia by PCR test, normal results indicate the absence of mutations or deletions in the alpha-globin genes. Any detection of such genetic abnormalities would be considered abnormal and suggestive of alpha-thalassaemia.

The alpha-thalassaemia by PCR test is used to diagnose alpha-thalassaemia, identify carriers of the genetic trait, and provide prenatal diagnosis in high-risk pregnancies. The results of this test are crucial for genetic counseling and family planning.

The frequency of the alpha-thalassaemia by PCR testing depends on the individual circumstances. Carrier screening is recommended once for those in high-risk populations or planning a family. Prenatal diagnosis may be necessary during pregnancy if there is a known risk. For diagnostic purposes, the test is performed as needed based on clinical symptoms and initial test results.

There is no specific time requirement for the alpha-thalassaemia by PCR test. The test can be done at any time of the day, as it does not require fasting or special preparation. Consult with your healthcare provider to schedule the test at a convenient time.

No, fasting is not required for the alpha-thalassaemia by PCR test. You can eat and drink normally before the test, as it does not affect the accuracy of the results.

No specific precautions are needed before undergoing the alpha-thalassaemia by PCR test other than ensuring the test is conducted at a reputable and accredited diagnostic centre. Your healthcare provider will guide you through the process and provide any necessary instructions.

The alpha-thalassaemia by PCR test specifically detects mutations or deletions in the alpha-globin genes. The test results indicate the presence or absence of these genetic abnormalities, which are the primary cause of alpha-thalassaemia.

The alpha-thalassaemia by PCR test should be done when there is a suspicion of alpha-thalassaemia based on clinical symptoms, family history, or abnormal results from initial blood tests like a complete blood count (CBC). It is also recommended for carrier screening in high-risk populations and prenatal diagnosis in at-risk pregnancies.

The alpha-thalassaemia by PCR test typically takes a few hours to complete in the laboratory. However, the overall turnaround time, from sample collection to the availability of results, may take a few days depending on the diagnostic centre and their processing protocols.

The turnaround time for alpha-thalassaemia by PCR test reports are available in a week depending upon the day/time of sample collection and processing. The exact turnaround time may vary depending on the diagnostic center and their workload.