ACAD8 Gene Isobutyryl-CoA Dehydrogenase Deficiency NGS Genetic DNA Test
Comprehensive Introduction to ACAD8 Genetic Testing
The ACAD8 Gene Isobutyryl-CoA Dehydrogenase Deficiency NGS Genetic DNA Test represents a breakthrough in metabolic disorder diagnostics. This specialized genetic test utilizes advanced Next-Generation Sequencing (NGS) technology to identify mutations in the ACAD8 gene, which encodes the enzyme isobutyryl-CoA dehydrogenase. This enzyme plays a crucial role in the metabolic pathway responsible for breaking down the amino acid valine, an essential component of protein metabolism.
Isobutyryl-CoA dehydrogenase deficiency is a rare autosomal recessive metabolic disorder that can lead to significant health challenges if undiagnosed. The importance of this test lies in its ability to provide definitive diagnosis, enabling early intervention and personalized treatment approaches that can dramatically improve patient outcomes and quality of life.
What the Test Measures and Detects
Our comprehensive NGS genetic DNA test specifically targets and analyzes the ACAD8 gene to identify:
- Pathogenic variants and mutations in the ACAD8 gene sequence
- Single nucleotide polymorphisms (SNPs) affecting enzyme function
- Deletions, insertions, and other structural variations
- Compound heterozygous or homozygous mutations
- Novel variants of uncertain significance with clinical correlation
The test employs state-of-the-art NGS technology that provides complete coverage of the ACAD8 gene coding regions, splice sites, and regulatory elements, ensuring maximum detection sensitivity and accuracy exceeding 99.9%.
Who Should Consider This Genetic Test
Clinical Indications and Symptoms
This test is recommended for individuals presenting with:
- Unexplained metabolic acidosis or ketotic hypoglycemia
- Developmental delays or neurological abnormalities
- Feeding difficulties and failure to thrive in infancy
- Elevated C4-acylcarnitine levels on newborn screening
- Family history of metabolic disorders or sudden infant death
- Unexplained cardiomyopathy or muscle weakness
- Recurrent vomiting, lethargy, or metabolic crises
At-Risk Populations
- Newborns with abnormal metabolic screening results
- Children with unexplained developmental regression
- Individuals with consanguineous parentage
- Patients with suggestive biochemical markers
- Family members of diagnosed individuals
Significant Benefits of ACAD8 Genetic Testing
Undergoing the ACAD8 Gene Isobutyryl-CoA Dehydrogenase Deficiency test provides numerous advantages:
- Early Diagnosis: Enables prompt intervention before serious complications develop
- Personalized Treatment: Guides specific dietary modifications and medical management
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Prognostic Information: Helps predict disease course and potential complications
- Preventive Care: Allows for proactive monitoring and preventive measures
- Peace of Mind: Reduces diagnostic uncertainty and provides clear answers
Understanding Your Test Results
Interpretation Guidelines
Our comprehensive genetic report includes detailed interpretation of your results:
Positive Result: Identification of pathogenic mutations confirms the diagnosis of isobutyryl-CoA dehydrogenase deficiency. Our genetic counselors will provide detailed guidance on management strategies, including specialized dietary plans, monitoring protocols, and emergency treatment plans for metabolic crises.
Negative Result: No pathogenic variants detected significantly reduces the likelihood of isobutyryl-CoA dehydrogenase deficiency, though clinical correlation with symptoms and biochemical findings remains essential.
Variant of Uncertain Significance (VUS): Some genetic changes may have unknown clinical significance. Our team provides ongoing monitoring and may recommend additional family studies for clarification.
Post-Test Recommendations
- Consultation with metabolic specialists and genetic counselors
- Development of personalized management plans
- Family member testing when indicated
- Regular follow-up and monitoring
Test Pricing and Booking Information
| Price Type | Amount (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Test Details
- Turnaround Time: 3 to 4 Weeks
- Sample Type: Blood
- Methodology: Next-Generation Sequencing (NGS)
- Specialty: Metabolic Genetics
Pre-Test Requirements
Before testing, we require:
- Complete clinical history of the patient
- Genetic counseling session
- Pedigree chart of affected family members
- Informed consent for genetic testing
Nationwide 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 laboratories ensures consistent quality and reliable results nationwide.
Take Action Today
Don’t let uncertainty about metabolic symptoms affect your quality of life. Our ACAD8 Gene Isobutyryl-CoA Dehydrogenase Deficiency NGS Genetic DNA Test provides the answers you need for proper diagnosis and management. With our special discount price of $500 USD, comprehensive genetic testing has never been more accessible.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Our knowledgeable genetic specialists are ready to guide you through the testing process and help you understand your results.
Take the first step toward clarity and personalized care. Contact us now to begin your journey to better health through advanced genetic diagnostics.
