Homocysteine Reflex B12-Folate Serum

This test measures the levels of homocysteine in your blood.

• To assess the risk of developing hyperhomocysteinemia and homocystinuria • To evaluate the effectiveness of treatment for these conditions • To detect and monitor deficiencies in vitamin B12 and folate

Your doctor might recommend this test if you • have a family history or genetic risk factors for hyperhomocysteinemia or homocystinuria, • are experiencing symptoms such as fatigue, weakness, numbness, or tingling in the extremities, or • have a previous diagnosis of or are being treated for hyperhomocysteinemia, homocystinuria, vitamin B12 deficiency, or folate deficiency.

Abnormal results may indicate hyperhomocysteinemia, homocystinuria, vitamin B12 deficiency, or folate deficiency.

During the test, a healthcare professional will draw a blood sample from your arm. The sample will be sent to a laboratory for analysis.

• Inform your doctor about any medications or supplements you are taking. • Follow any fasting instructions given by your doctor, if applicable. • Inform your doctor if you have any specific requirements.

• Complete Blood Count (CBC): Determines the number and types of blood cells present • Vitamin B12 and Folate Levels: Evaluate deficiencies in these vitamins • Genetic Testing: Identifies specific genetic mutations related to hyperhomocysteinemia or homocystinuria

Homocysteine, Vitamin B12, and Folate test

Hyperhomocysteinemia refers to elevated levels of homocysteine in the blood. It can be caused by various factors, including deficiencies in vitamin B12, folate, or vitamin B6. Other factors that can contribute to hyperhomocysteinemia include genetic mutations, certain medications, kidney disease, and lifestyle factors such as smoking and excessive alcohol consumption. Elevated homocysteine levels have been associated with an increased risk of cardiovascular disease, blood clots, stroke, and other vascular conditions.

Homocystinuria, on the other hand, is a rare genetic disorder characterized by the body's inability to properly process homocysteine. This condition is typically caused by a deficiency or malfunction of enzymes involved in homocysteine metabolism, such as cystathionine beta-synthase (CBS) or methionine synthase. As a result, homocysteine levels become significantly elevated in the blood and urine. Homocystinuria can lead to various complications, including vision problems, skeletal abnormalities, intellectual disability, cardiovascular issues, and an increased risk of blood clots.