GAUCHER DISEASE (GBA) GENE ANALYSIS in Rethibowli, Hyderabad

Gaucher Disease (GBA) Gene Analysis: Price, Purpose, Range & Reports

 Test Overview

The Gaucher Disease (GBA) Gene Analysis is a specialised genetic test used to identify mutations in the GBA gene, which are the underlying cause of Gaucher disease (GD). Gaucher disease is a rare, inherited lysosomal storage disorder where a deficiency in the glucocerebrosidase enzyme leads to the accumulation of fatty substances (glucocerebroside) in cells and organs, primarily the spleen, liver, and bone marrow.

Identifying the specific GBA gene mutations is essential for confirming a diagnosis, classifying the disease type (Type 1, 2, or 3), and guiding management, as the presence of certain mutations (like N370S or L444P) strongly correlates with disease severity. If you are searching for the Gaucher Disease (GBA) Gene Analysis price or a reliable genetic test near me, Apollo 24|7 provides access to accredited, high-quality molecular diagnostic services with secure and timely report delivery.

What is the Gaucher Disease (GBA) Gene Analysis Test?

The Gaucher Disease (GBA) Gene Analysis is a molecular test performed on a blood sample (or other tissue) to sequence or screen for the most common pathogenic mutations within the GBA gene. This gene provides instructions for making the enzyme glucocerebrosidase.

• Genetic Basis: Gaucher disease is inherited in an autosomal recessive pattern, meaning an individual must inherit two copies of the mutated GBA gene (one from each parent) to develop the condition.
• Methodology: The test typically uses techniques like Polymerase Chain Reaction (PCR) and Sanger or Next-Generation Sequencing (NGS) to analyse the entire coding region and splice sites of the GBA gene, identifying both common and rare mutations.

The analysis not only confirms the clinical diagnosis but also provides crucial information regarding the prognosis and potential neurological involvement, which is often dictated by the specific mutation profile.

What is the Gaucher Disease (GBA) Gene Analysis Price?

The cost of the Gaucher Disease (GBA) Gene Analysis reflects its complex nature as a high-end molecular diagnostic test, requiring advanced laboratory technology and highly specialised scientific interpretation.

Factors Affecting the Test Cost

The final price is influenced by these essential quality and service factors:

• Complex Sequencing Technology: The test utilizes sophisticated molecular techniques (PCR, sequencing/NGS) to accurately map the genetic code, which is significantly more resource-intensive than standard blood chemistry tests.
• Bioinformatics Analysis: Extensive bioinformatics analysis is required to interpret the sequenced data and classify the detected mutations according to their known clinical significance.
• Quality Assurance: The fee covers processing at NABL-accredited Apollo laboratories, ensuring that the genetic data analysis is reliable and meets stringent international standards for human molecular diagnostics.
• Service Type: Opting for home sample collection may slightly adjust the total cost due to convenience and travel charges.

To find the most accurate and current Gaucher Disease (GBA) Gene Analysis price near me, please check the Apollo 24|7 app or website for real-time pricing specific to your location.

What is the Purpose of the Gaucher Disease (GBA) Gene Analysis?

The primary purpose of the GBA gene analysis is to provide a precise molecular diagnosis, which is critical for the appropriate management of Gaucher disease.

• Confirmatory Diagnosis: To confirm Gaucher disease in individuals presenting with clinical symptoms (e.g., enlarged spleen/liver, bone pain, unexplained anemia) and reduced glucocerebrosidase enzyme activity.
• Disease Classification: To determine the type of Gaucher disease: Type 1 (most common, non-neuropathic), Type 2 (acute neuropathic), or Type 3 (chronic neuropathic), as the genotype strongly predicts the phenotype.
• Carrier Screening/Family Planning: To identify asymptomatic carriers (who possess one copy of the mutation) for genetic counseling and family planning, especially for individuals with a family history of GD.
• Prognostic Assessment: To assess the risk for developing certain complications (especially neurological involvement) and determine eligibility for specific treatments like Enzyme Replacement Therapy (ERT) or substrate reduction therapy.

Who Should Get the Gaucher Disease (GBA) Gene Analysis Done?

This gene analysis is typically ordered by a physician or genetic counsellor when Gaucher disease is suspected based on clinical findings or family history.

You may be advised to take this test if:

• You have symptoms highly suggestive of Gaucher disease, such as splenomegaly (enlarged spleen), unexplained bone crises or bone pain, liver enlargement, or thrombocytopenia/anaemia.
• You have a confirmed deficiency of the glucocerebrosidase enzyme activity, and the physician needs to identify the specific gene mutation for classification and prognosis.
• There is a known history of Gaucher disease in your family, and you are seeking genetic counselling or carrier testing before or during pregnancy.
• You are an individual of Ashkenazi Jewish descent, as the prevalence of Gaucher disease (particularly Type 1) is significantly higher in this population.

Components of Gaucher Disease (GBA) Gene Analysis

This molecular genetic test examines the GBA (glucocerebrosidase) gene to identify mutations responsible for Gaucher disease. Using advanced sequencing methods, the analysis detects known and novel variants that affect the gene’s ability to produce the glucocerebrosidase enzyme. Identifying these mutations is crucial for confirming diagnosis, determining disease subtype, and assessing prognosis in individuals or families affected by Gaucher disease.

Understanding a Gaucher Disease (GBA) Gene Analysis Report

The report will specify the exact mutation(s) detected in the GBA gene. Unlike serology tests, this report is definitive and usually permanent. 

Interpretation Note: Results must always be reviewed by a qualified geneticist or physician in conjunction with clinical findings, enzyme activity results, and family history. The GBA genotype provides key insights for accurate classification and treatment planning in Gaucher disease.

Preparation and Procedure for the Gaucher Disease (GBA) Gene Analysis

The GBA gene analysis is a simple blood test that requires no special preparation.

How Is the Gaucher Disease (GBA) Gene Analysis Performed?

• Sample Collection: A trained phlebotomist collects a standard venous blood sample, usually from your arm.
• DNA Extraction: DNA is extracted from the white blood cells in the sample.
• Molecular Analysis: The extracted DNA is subjected to advanced molecular diagnostic techniques (like sequencing or a gene-specific panel) to read the code of the GBA gene and identify any mutations.

Is Fasting Needed Before the Test?

No, fasting is not required for the GBA Gene Analysis. Food and drink do not affect the DNA in your blood cells.

Can Medications Affect the Test Results?

• Medications, including enzyme replacement therapy (ERT), do not alter your genetic code.
• Therefore, they do not affect the results of the GBA gene analysis.

What Is the Best Time of Day to Take the Test?

The test can be performed at any time of day, as DNA is stable.

How Frequently Is the Test Needed?

Once in a Lifetime. Since your genetic makeup does not change, this test is performed only once for diagnostic or carrier screening purposes.

Booking the Gaucher Disease (GBA) Gene Analysis Online & Checking Reports

Apollo 24|7 simplifies the process of scheduling this specialized genetic test and accessing your results.

A. What are the Steps to Schedule the Test on Apollo 24|7?

1. Visit the Apollo 24|7 website or mobile application and search for Gaucher Disease (GBA) Gene Analysis.
2. Review the latest test price for your city and click the ‘Book Now’ button.
3. Select your preferred date and a convenient time slot for home sample collection.
4. Complete the secure online payment. You will receive immediate confirmation and preparation details.

B. How Do I Access My Test Results Online on Apollo 24|7?

1. Log in to your Apollo 24|7 account using your registered phone number or email ID.
2. Go to the ‘Health Records’ or ‘My Reports’ section on your dashboard.
3. Click on the test name to view your detailed, NABL-certified report as soon as it is available.
4. You can easily view the report online or download it in PDF format to share instantly with your physician or genetic counselor.

Conclusion

The Gaucher Disease (GBA) Gene Analysis is an indispensable tool for diagnosing, classifying, and managing this complex inherited disorder. By providing precise identification of the underlying genetic mutations, the test empowers physicians to select the most appropriate therapeutic strategy (such as ERT) and offers crucial information for genetic counselling. Utilising accredited services like those through Apollo 24|7 ensures the highest level of accuracy for making lifelong medical and family planning decisions.