Test Name	GNPTAB Gene Mucolipidosis type 3 NGS Genetic DNA Test
Test type	General Physician
Pre-test Information	Clinical History of Patient who is going for GNPTAB Gene Mucolipidosis type 3 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Mucolipidosis type 3
Report Delivery	3 to 4 Weeks
Components
Price	₹ 20000
Method	NGS Technology

Short Description

NGS genetic DNA test detecets for variant and mutation detection in GNPTAB gene for Mucolipidosis type 3

PreTest Information

Clinical History of Patient who is going for GNPTAB Gene Mucolipidosis type 3 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Mucolipidosis type 3

Detail Description

GNPTAB Gene Mucolipidosis Type 3 NGS Genetic DNA Test: Cost, Symptoms, Diagnosis

Introduction

Mucolipidosis type 3 is a rare genetic disorder that affects the body's ability to break down certain substances. The GNPTAB gene is responsible for producing an enzyme that helps break down these substances. Mutations in this gene can lead to mucolipidosis type 3. This disorder affects many parts of the body, including the bones, joints, and muscles.

Symptoms

The symptoms of mucolipidosis type 3 can vary widely from person to person. Some common symptoms include:

• Short stature
• Joint stiffness
• Muscle weakness
• Abnormal bone development
• Delayed speech and language development
• Intellectual disability

Diagnosis

Diagnosing mucolipidosis type 3 can be difficult. A doctor will typically start by performing a physical exam and taking a detailed medical history. They may also order a variety of tests, including:

• Blood and urine tests to check for elevated levels of certain substances
• X-rays and other imaging tests to look for abnormalities in the bones and joints
• Genetic testing to look for mutations in the GNPTAB gene

GNPTAB Gene Mucolipidosis Type 3 NGS Genetic DNA Test

The GNPTAB gene mucolipidosis type 3 NGS genetic DNA test is a diagnostic test that looks for mutations in the GNPTAB gene. This test uses next-generation sequencing (NGS) technology to analyze the DNA and identify any mutations that may be present.

Cost

The cost of the GNPTAB gene mucolipidosis type 3 NGS genetic DNA test in India is approximately INR 20,000.

Conclusion

Mucolipidosis type 3 is a rare genetic disorder that can cause a range of symptoms. If you or a loved one is experiencing any of the symptoms associated with this disorder, it is important to speak with a doctor. The GNPTAB gene mucolipidosis type 3 NGS genetic DNA test can help diagnose this disorder and provide valuable information for treatment and management.

Before getting tested ask for Raw Data, FASTQ, and VCF files along with clinical test report from DNA Testing Lab. DNA Labs India is the Only lab that is transparent and will share Raw Data, FASTQ, and VCF files along with the conclusive clinical report for GNPTAB Gene Mucolipidosis type 3 NGS Genetic DNA Test