Short Description

NGS genetic DNA test detecets for variant and mutation detection in PKLR gene for Pyruvate kinase deficiency with hemolytic anemia

PreTest Information

Clinical History of Patient who is going for PKLR Gene Pyruvate kinase deficiency with hemolytic anemia NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Pyruvate kinase deficiency with hemolytic anemia

Detail Description

PKLR Gene Pyruvate Kinase Deficiency with Hemolytic Anemia NGS Genetic DNA Test Cost INR: 20000 Symptoms Diagnosis

PKLR Gene Pyruvate Kinase Deficiency with Hemolytic Anemia is a rare genetic disorder that affects the red blood cells. It is caused by a mutation in the PKLR gene which leads to the production of an abnormal pyruvate kinase enzyme. This enzyme is essential for the survival of red blood cells, and its deficiency leads to their destruction, resulting in hemolytic anemia.

At DNA Labs India, we offer an NGS Genetic DNA Test that can detect mutations in the PKLR gene and provide an accurate diagnosis for PKLR Gene Pyruvate Kinase Deficiency with Hemolytic Anemia. The cost of this test is INR 20000.

Symptoms

The symptoms of PKLR Gene Pyruvate Kinase Deficiency with Hemolytic Anemia can vary depending on the severity of the condition. Some common symptoms include:

• Jaundice
• Fatigue
• Shortness of breath
• Enlarged spleen
• Pale skin
• Dark urine

If you are experiencing any of these symptoms, it is important to consult a healthcare professional for proper diagnosis and treatment.

Diagnosis

Diagnosis of PKLR Gene Pyruvate Kinase Deficiency with Hemolytic Anemia involves several tests, including:

• Complete Blood Count (CBC)
• Bilirubin Test
• Retics Count
• Osmotic Fragility Test
• Hemoglobin Electrophoresis
• PKLR Gene Testing

The NGS Genetic DNA Test offered by DNA Labs India can detect mutations in the PKLR gene and provide an accurate diagnosis for PKLR Gene Pyruvate Kinase Deficiency with Hemolytic Anemia.

Conclusion

PKLR Gene Pyruvate Kinase Deficiency with Hemolytic Anemia is a rare genetic disorder that can be diagnosed through an NGS Genetic DNA Test. At DNA Labs India, we offer this test for a cost of INR 20000. If you are experiencing any symptoms related to this condition, it is important to consult a healthcare professional for proper diagnosis and treatment.

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 PKLR Gene Pyruvate kinase deficiency with hemolytic anemia NGS Genetic DNA Test