Short Description

NGS genetic DNA test detecets for variant and mutation detection in MTRR gene for Homocystinuria-megaloblastic anemia, cbl E type

PreTest Information

Clinical History of Patient who is going for MTRR Gene Homocystinuria-megaloblastic anemia, cbl E type NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with MTRR Gene Homocystinuria-megaloblastic anemia, cbl E type NGS Genetic DNA Test gene MTRR

Detail Description

MTRR Gene Homocystinuria-Megaloblastic Anemia, cbl E Type NGS Genetic DNA Test

Homocystinuria-megaloblastic anemia, cbl E type is a rare genetic disorder that affects the body's ability to process vitamin B12. This disorder is caused by mutations in the MTRR gene, which provides instructions for making an enzyme called methionine synthase reductase. This enzyme is important for the normal metabolism of homocysteine, an amino acid found in the blood.

Individuals with MTRR gene mutations have a decreased ability to convert homocysteine to methionine, which can lead to a buildup of homocysteine in the blood and urine. This can cause a range of symptoms, including:

• Developmental delay
• Intellectual disability
• Seizures
• Weak muscle tone
• Pale skin
• Enlarged liver and spleen
• Megaloblastic anemia
• Increased risk of blood clots
• Increased risk of heart disease and stroke

Diagnosis of homocystinuria-megaloblastic anemia, cbl E type is typically made through a combination of clinical evaluation, blood tests to measure homocysteine and vitamin B12 levels, and genetic testing to identify mutations in the MTRR gene. NGS Genetic DNA Test is a highly accurate and reliable method for genetic testing, and can identify mutations in the MTRR gene with a high degree of certainty.

The cost of NGS Genetic DNA Test for MTRR Gene Homocystinuria-Megaloblastic Anemia, cbl E Type is INR 20,000 in DNA Labs India. This test is performed using a small sample of blood or saliva, and results are typically available within 2-4 weeks.

If you or a loved one is experiencing symptoms of homocystinuria-megaloblastic anemia, cbl E type, it is important to seek medical evaluation and consider genetic testing to identify the underlying cause of the disorder. Early diagnosis and treatment can help improve outcomes and prevent complications associated with this rare genetic disorder.