HOMOCISTEINA

Also known as: Hcys

What you need to know about study HOMOCISTEINA

Sample type Serum or plasma
Delivery time 12 hours
Do I need to fast? Sí

What is this study and what is it for?

A screening aid for patients suspected of having an inherited disorder of methionine metabolism, including: - Cystathionine beta-synthase deficiency (homocystinuria). - Methylenetetrahydrofolate reductase (MTHFR) deficiency and its thermolabile variants. -Methionine synthase deficiency. -Cobalamin (Cbl) metabolism. -Combined methyl-Cbl and adenosyl-Cbl deficiencies: Cbl C2, Cbl D2, and Cbl F3 deficiencies. -Methyl-Cbl specific deficiencies: Cbl D-Var1, Cbl E, and Cbl G deficiencies. - Transcobalamin II deficiency. -Adenosylhomocysteinase (AHCY) deficiency. -Glycine N-methyltransferase (GNMT) deficiency. -Methionine adenosyltransferase (MAT) I/III deficiency. Detection and follow-up of patients with suspected or confirmed methionine metabolism hereditary disorder. Evaluation of people with suspected vitamin B12 or folate deficiency.

What type of sample is needed?

Serum or plasma

Preparation / Instructions

4-hour fast

Delivery time

12 hours

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    The information published on this site is for informational and educational purposes. It is not a substitute for medical consultation, professional diagnosis, or treatment prescribed by a specialist. If you have any questions regarding symptoms, test results, or laboratory studies, please consult your doctor.