AHCY Gene Hypermethioninemia with S-Adenosylhomocysteine Hydrolase Deficiency NGS Genetic DNA Test
Comprehensive Introduction to AHCY Gene Testing
The AHCY Gene Hypermethioninemia with S-Adenosylhomocysteine Hydrolase Deficiency NGS Genetic DNA Test represents a breakthrough in precision medicine for rare metabolic disorders. This advanced diagnostic tool utilizes Next-Generation Sequencing (NGS) technology to analyze the AHCY gene, which plays a crucial role in methionine metabolism. When this gene functions improperly, it leads to the accumulation of methionine and S-adenosylhomocysteine in the body, causing significant neurological and developmental challenges.
Early detection through this specialized genetic test is paramount for implementing timely interventions and preventing long-term complications. The test’s importance extends beyond diagnosis, providing valuable information for family planning and genetic counseling while enabling healthcare providers to develop targeted treatment strategies that address the specific metabolic imbalances present in each individual.
What This Advanced Genetic Test Measures and Detects
Our comprehensive NGS genetic test specifically targets the AHCY gene located on chromosome 20, analyzing its complete coding sequence and critical regulatory regions. The test identifies:
- Pathogenic variants and mutations in the AHCY gene
- Single nucleotide polymorphisms (SNPs) affecting enzyme function
- Insertions, deletions, and copy number variations
- Compound heterozygous mutations
- Novel genetic variants with potential clinical significance
The test provides detailed information about the specific genetic alterations that disrupt S-adenosylhomocysteine hydrolase activity, the enzyme responsible for converting S-adenosylhomocysteine to homocysteine and adenosine. This disruption leads to the characteristic hypermethioninemia and associated clinical manifestations.
Who Should Consider AHCY Genetic Testing
This specialized genetic test is recommended for individuals presenting with specific clinical indicators and symptoms suggestive of AHCY-related disorders:
Primary Clinical Indications
- Infants and children with persistently elevated plasma methionine levels
- Patients exhibiting neurological symptoms including developmental delay
- Individuals with muscle weakness, hypotonia, or abnormal muscle tone
- Patients showing signs of demyelination on neurological imaging
- Children with failure to thrive or growth abnormalities
Additional Considerations
- Family history of hypermethioninemia or related metabolic disorders
- Siblings of diagnosed individuals for carrier testing
- Prenatal testing when there’s known family risk
- Unexplained metabolic abnormalities in pediatric patients
Significant Benefits of AHCY Genetic Testing
Undergoing the AHCY Gene Hypermethioninemia NGS Test provides numerous advantages for patients and healthcare providers:
- Accurate Diagnosis: Provides definitive confirmation of AHCY-related hypermethioninemia, distinguishing it from other causes of elevated methionine
- Personalized Treatment: Enables development of targeted dietary and therapeutic interventions
- Prognostic Information: Helps predict disease severity and potential complications
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Early Intervention: Facilitates timely management to prevent neurological damage
- Comprehensive Analysis: NGS technology ensures thorough examination of the entire AHCY gene
Understanding Your Test Results
Our comprehensive genetic report provides detailed interpretation of your AHCY gene analysis with clear clinical guidance:
Positive Results
A positive result indicates the presence of pathogenic variants in the AHCY gene confirming the diagnosis of S-adenosylhomocysteine hydrolase deficiency. Our genetic counselors will provide detailed explanations of the specific mutations found and their clinical implications, along with recommendations for management and treatment strategies.
Negative Results
A negative result suggests that no pathogenic variants were detected in the AHCY gene. However, this does not completely rule out the possibility of hypermethioninemia from other causes, and further metabolic testing may be recommended based on clinical presentation.
Variant of Uncertain Significance (VUS)
In some cases, the test may identify genetic variants with unknown clinical significance. Our team provides comprehensive interpretation and may recommend additional family studies or follow-up testing to clarify the variant’s impact.
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
| Turnaround Time | 3-4 Weeks |
| Sample Type | Blood |
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our network of certified collection centers ensures accessible testing regardless of your location.
Take Action Today
Don’t wait to get the answers you need for proper diagnosis and treatment. Our team of genetic specialists is ready to assist you with comprehensive testing and personalized care. Contact us today to schedule your AHCY Gene Hypermethioninemia NGS Genetic DNA Test and take the first step toward understanding your genetic health.
Call or WhatsApp: +1(267) 388-9828 to book your appointment or speak with our genetic counseling team. We’re here to provide the clarity and guidance you need for informed healthcare decisions.
