What is Homocystinuria Screening?
Homocystinuria screening is a genetic test to detect a rare metabolic disorder called homocystinuria. This condition is caused by the body’s inability to break down an amino acid called methionine, leading to a buildup of homocysteine in the blood.
Why Homocystinuria Screening is required?
Early detection of homocystinuria is crucial because untreated can lead to serious health problems, including:
- Cardiovascular issues
- Mental retardation
- Bone disorders
- Eye problems
which are the method of Homocystinuria Screening?
Homocystinuria screening typically involves:
- Blood test: A blood sample is taken to measure homocysteine levels.
- Urine test: In some cases, a urine test may be performed to measure the amount of homocysteine excreted.
who should go for Homocystinuria Screening?
While newborn screening programs are common in many countries, it’s recommended for individuals with a family history of homocystinuria or those at risk due to certain genetic factors.
What are the results of Homocystinuria Screening?
A positive result on a homocystinuria screening test indicates the need for further evaluation and genetic testing to confirm the diagnosis. A negative result does not guarantee that an individual is free from the condition.
What are the components of Homocystinuria Screening?
The primary component of homocystinuria screening is the measurement of homocysteine levels in the blood or urine.
