ACY1 Gene Aminoacylase Deficiency NGS Genetic DNA Test
Comprehensive Genetic Screening for Metabolic Disorders
The ACY1 Gene Aminoacylase Deficiency NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying inherited metabolic disorders. Aminoacylase deficiency is a rare autosomal recessive condition caused by mutations in the ACY1 gene, which encodes the enzyme aminoacylase-1. This enzyme plays a critical role in the final step of protein degradation, specifically in the hydrolysis of N-acetylated amino acids. When this enzymatic function is compromised, it can lead to the accumulation of toxic metabolites and subsequent neurological and developmental complications.
What This Advanced Genetic Test Measures
Our comprehensive NGS genetic test specifically targets and analyzes the ACY1 gene to identify pathogenic variants that cause aminoacylase deficiency. The test utilizes next-generation sequencing technology to examine:
- Complete coding regions of the ACY1 gene
- Exon-intron boundaries for splice site mutations
- Regulatory regions that may affect gene expression
- Both known and novel genetic variants associated with the disorder
Who Should Consider This Genetic Test
This specialized genetic test is recommended for individuals presenting with symptoms suggestive of aminoacylase deficiency or those with a family history of metabolic disorders. Key indications include:
- Infants and children with unexplained developmental delays
- Patients exhibiting neurological symptoms such as seizures or movement disorders
- Individuals with metabolic acidosis or abnormal organic acid profiles
- Those with a family history of aminoacylase deficiency or related metabolic conditions
- Patients with unexplained intellectual disability or cognitive impairment
- Newborns with abnormal newborn screening results
Significant Benefits of Early Detection
Undergoing the ACY1 Gene Aminoacylase Deficiency NGS Genetic DNA Test offers numerous advantages for patients and families:
- Accurate Diagnosis: Provides definitive identification of the genetic cause of symptoms
- Early Intervention: Enables timely implementation of appropriate management strategies
- Family Planning: Offers crucial information for genetic counseling and reproductive decisions
- Personalized Treatment: Guides development of targeted therapeutic approaches
- Prognostic Information: Helps predict disease progression and potential complications
- Peace of Mind: Reduces diagnostic uncertainty for patients and families
Understanding Your Test Results
Our comprehensive genetic analysis provides detailed insights into your ACY1 gene status. Results are typically categorized as:
- Positive Result: Identifies pathogenic variants in the ACY1 gene, confirming aminoacylase deficiency diagnosis
- Negative Result: No disease-causing variants detected, though clinical correlation remains essential
- Variant of Uncertain Significance: Identifies genetic changes with unclear clinical implications requiring further evaluation
- Carrier Status: Identifies individuals with one copy of a mutated gene who may pass the condition to offspring
All results are accompanied by detailed interpretation from our certified genetic counselors, who provide personalized guidance on next steps and management recommendations.
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Accessibility
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 genetic testing facilities ensures consistent quality and reliable results nationwide.
Take Control of Your Genetic Health Today
Don’t let uncertainty about metabolic disorders affect your quality of life. Our ACY1 Gene Aminoacylase Deficiency NGS Genetic DNA Test provides the clarity and confidence you need for informed healthcare decisions. With our discounted price of $500 USD and comprehensive genetic counseling support, you can access world-class diagnostic services without financial burden.
Ready to schedule your test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Our team is available to answer your questions and guide you through the testing process with compassion and expertise.
