AHCY Gene Hypermethioninemia with S-Adenosylhomocysteine Hydrolase Deficiency Genetic Test in UAE | 2800 AED | 2026 DHA Guidelines

1. What exactly does the AHCY NGS test detect, and how reliable is it?

This test identifies disease-causing mutations in the entire AHCY gene using high‑coverage next generation sequencing, achieving over 99.9% diagnostic sensitivity for S‑adenosylhomocysteine hydrolase deficiency. It detects single nucleotide variants, small insertions, deletions, and copy number changes within the gene, providing a definitive molecular diagnosis when clinical and biochemical signs suggest this rare metabolic disorder. All results are interpreted according to ACMG guidelines by our ISO‑accredited laboratory.

2. Who should consider this genetic test in the UAE?

Pediatricians, neonatologists, and clinical geneticists order this test for infants and children presenting with developmental delay, unexplained hypermethioninemia, hepatic dysfunction, or a family history of inborn errors of metabolism. It is also appropriate for asymptomatic siblings of a confirmed case, couples with prenatal screening concerns, and adults with late‑onset neurological symptoms where a metabolic etiology is suspected. Pre‑test genetic counselling is mandatory per DHA directives to ensure informed decision‑making.

3. How should I prepare for the sample collection, and are there any dietary restrictions?

No fasting or dietary modification is required before the blood draw; however, you must inform our team of any blood‑thinning medications and continue all prescribed treatments unless advised otherwise by your doctor. A clinical history form detailing the patient’s symptoms and family pedigree will be provided during the pre‑ genetic counseling session. For minors, a legal guardian must be present to sign consent as mandated by UAE CDS Law 2026.