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

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
  • 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

Home Sample Collection Process

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Book your convenient slot
Sample Collection by Phlebotomist
Sample Collection by Phlebotomist
Reporting of the sample at lab
Reporting of the sample at lab
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Download Reports
Frequently Asked Questions

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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

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.

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.

Alpha-1 Antitrypsin, Genotyping (Z,X,M Mutation By PCR)
₹ 7500 Add to Cart
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  • 3KM from Banjara Hills
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  • 5KM from Shaikpet