AHCY Individual Gene-Cell Science Systems Kit:
Note: This is a test kit that will be mailed to you. It can be performed using a swab or a blood draw. Unless we are told otherwise, the swabs will be sent to you. It is your responsibility to arrange for the blood draw for your kit should you choose the blood draw.
Fasting Required: No
Lab: Cell Science Systems
Specimen: Swab (Blood - by request only)
Results: Average processing time 10-15 business days
Note: Result turnaround times are an estimate and are not guaranteed. Our reference lab may need additional time due to weather, holidays, confirmation/repeat testing, or equipment maintenance.
Medication and Supplement Instructions for CSS Testing:
- Testing does not need to be delayed because of medication or supplement use.
- Medications that are part of your daily routine should be continued as they are considered part of your normal physiological state.
- If possible, please avoid taking any oral medications, IV infusions, intramuscular (IM) injections, or oral supplements for 4 hours before blood draw.
- If you are taking medications that may impact white blood cell counts, it is recommended to collect an additional blood tube at the time of your draw.
- For short term medications (such as antibiotics) that will be discontinued, it is best to wait at least 2 weeks after completing the medication before completing your blood draw.
- If you are taking methylene blue, it is recommended to wait at least 72 hours after your last dose before proceeding with your blood draw for the Cellular Nutrition Assay.
- Fasting is not necessary
Description: The AHCY gene encodes an enzyme called S-adenosylhomocysteine hydrolase and is the only enzyme known to convert S-adenosylhomocysteine (AdoHcy) to homocysteine. SAMe (S-adenosylmethionine) is converted to S-adenosylhomocysteine (AdoHcy) after donating its methyl group for methylation catalyzed by COMT (see COMT).
AdoHcy is then converted by S-adenosylhomocysteine hydrolase back to homocysteine. Nicotinamide adenine dinucleotide (NADH) serves in this reaction as a co-factor for AHCY.
AdoHcy is an inhibitor of methylation processes. The ratio between AdoMet and AdoHcy is referred to as methylation potential. Therefore, it is crucial that AHCY immediately converts AdoHcy to homocysteine and adenine in order to maintain an optimal methylation potential. Several genetic polymorphisms (SNPs) in this gene are known to alter activity and expression of this enzyme, leading to elevated AdoHcy concentrations and impaired methylation potential. Recent studies show association between those mutations resulting in poor methylation potentials, severe myopathies, developmental delays and hypermethioninemia.
