Alpha-1 Antitrypsin, Genotyping Test Price, Normal Range | Sprint Diagnostics Hyderabad

Patient Preparing : No special preparation is needed for this test. Continue with your usual diet and medications unless directed otherwise by your doctor.

₹ 7500


Alpha-1 Antitrypsin (AAT) is a protein primarily produced in the liver and is involved in protecting the lungs from the damaging effects of inflammation and infections. Genetic mutations in the SERPINA1 gene, which is responsible for encoding AAT, can lead to Alpha-1 Antitrypsin Deficiency (AATD). AATD is a condition where there is a decreased level of AAT protein in the blood, leaving the lungs vulnerable to damage. This can result in lung diseases such as emphysema and chronic obstructive pulmonary disease (COPD).

Genotyping of Alpha-1 Antitrypsin by PCR is a genetic test that detects the presence of mutations in the SERPINA1 gene. The most common mutations associated with AATD are the Z and S mutations, but other mutations, including X and M, can also be detected. Identifying these mutations is crucial for diagnosing AATD and understanding the risks associated with lung and liver diseases.

Test Name Alpha-1 Antitrypsin, Genotyping (Z,X,M Mutation By PCR)
Sample Type Blood Sample
Preparations Required No special preparation is needed for this test. Continue with your usual diet and medications unless directed otherwise by your doctor.
Report Time 10 days
Price in Hyderabad ₹ 7500

What is Alpha-1 Antitrypsin Genotyping?

Alpha-1 Antitrypsin Genotyping is a blood test that identifies mutations in the SERPINA1 gene, which encodes for the Alpha-1 Antitrypsin protein. The test detects the presence of specific mutations, including Z, X, M, and others, which are associated with Alpha-1 Antitrypsin Deficiency.

Why is Alpha-1 Antitrypsin Genotyping important?

This genotyping is important to diagnose Alpha-1 Antitrypsin Deficiency, a genetic disorder that can cause lung and liver diseases. Knowing if you have these mutations can help in the management and prevention of these diseases.

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Who should get tested for Alpha-1 Antitrypsin Genotyping?

Individuals with a family history of AATD, those who have symptoms of lung diseases such as COPD or emphysema, and individuals with unexplained liver disease should consider getting tested.

How is Alpha-1 Antitrypsin Genotyping performed?

A blood sample is drawn from a vein in the arm. The sample is then analyzed in a laboratory using Polymerase Chain Reaction (PCR) technology to detect mutations in the SERPINA1 gene.

What does a positive result mean?

A positive result indicates that mutations in the SERPINA1 gene are present. This could mean that you have Alpha-1 Antitrypsin Deficiency and may be at risk for lung and liver diseases.

Are there any treatments available for AATD?

There is no cure for AATD, but treatments can help manage symptoms and slow the progression of lung disease. Treatment options include medication, pulmonary rehabilitation, and in some cases, augmentation therapy which involves infusing the AAT protein.

What is the Z mutation in Alpha-1 Antitrypsin?

The Z mutation is a common genetic mutation associated with AATD. Individuals who inherit two copies of the Z mutation, one from each parent, usually have significantly reduced levels of AAT and are at a higher risk for developing lung and liver diseases.

Can Alpha-1 Antitrypsin Genotyping predict the severity of AATD?

Genotyping can identify mutations associated with AATD, but it does not predict the severity of the condition. Other factors such as lifestyle, environmental exposure, and additional genetic factors may affect the severity.

What are the risks associated with having AATD?

Having AATD increases the risk of developing lung diseases such as COPD and emphysema, as well as liver diseases such as liver cirrhosis and liver cancer.

What lifestyle changes are recommended for individuals with AATD?

For individuals with AATD, it’s recommended to avoid smoking, avoid exposure to lung irritants, get regular exercise, eat a balanced diet, and attend regular check-ups with a doctor.

Can I pass AATD to my children?

Yes, AATD is a genetic disorder and can be passed on to children. If both parents are carriers of the mutation, there is a chance that their children will inherit the disorder.

How often should I be tested for AATD?

If you have a family history of AATD or symptoms suggestive of lung or liver disease, it's essential to discuss with your doctor the need for testing. If diagnosed, regular monitoring as per your doctor's advice is crucial.

What are the modifiable and non-modifiable factors that affect Alpha-1 Antitrypsin levels?

Modifiable factors include smoking, exposure to pollutants, and lifestyle choices. Non-modifiable factors include genetic makeup and family history.

What does the M mutation mean in Alpha-1 Antitrypsin Genotyping?

The M allele in the SERPINA1 gene is considered the normal variant. People with two M alleles (MM) usually have normal levels of Alpha-1 Antitrypsin.

Which doctor should I consult if the test shows I have Alpha-1 Antitrypsin Deficiency?

If the test shows that you have Alpha-1 Antitrypsin Deficiency, you should consult a pulmonologist for lung-related symptoms or a hepatologist for liver-related symptoms.

Alpha-1 Antitrypsin Genotyping is an essential diagnostic tool for identifying Alpha-1 Antitrypsin Deficiency. Knowing your genetic status can help in the proactive management of associated lung and liver diseases. It is important to discuss with your doctor if you have a family history or symptoms suggestive of AATD. Through lifestyle changes and proper medical management, the progression of diseases associated with AATD can be mitigated.

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