ALDH5A1 Gene Succinic Semialdehyde Dehydrogenase Deficiency NGS Genetic DNA Test
Understanding SSADH Deficiency and Genetic Testing
Succinic semialdehyde dehydrogenase (SSADH) deficiency is a rare autosomal recessive metabolic disorder caused by mutations in the ALDH5A1 gene. This condition disrupts the normal breakdown of gamma-aminobutyric acid (GABA), the primary inhibitory neurotransmitter in the central nervous system. When SSADH enzyme function is impaired, GABA accumulates to toxic levels, leading to significant neurological complications that can affect cognitive development, motor skills, and overall neurological function.
The ALDH5A1 Gene NGS Genetic DNA Test represents a breakthrough in diagnostic precision for this challenging condition. Using advanced next-generation sequencing technology, our comprehensive analysis examines the entire ALDH5A1 gene to identify pathogenic variants with exceptional accuracy. Early detection through this specialized testing enables healthcare providers to implement targeted interventions and management strategies that can significantly improve patient outcomes.
What This Advanced Genetic Test Detects
Our NGS-based ALDH5A1 genetic test provides comprehensive analysis of:
- Complete sequencing of the ALDH5A1 gene coding regions
- Detection of point mutations, insertions, and deletions
- Identification of known pathogenic variants associated with SSADH deficiency
- Analysis of splice site mutations affecting gene expression
- Comprehensive variant interpretation by certified genetic specialists
The test specifically targets the ALDH5A1 gene located on chromosome 6p22, which encodes the succinic semialdehyde dehydrogenase enzyme. This enzyme plays a critical role in the GABA shunt pathway, converting succinic semialdehyde to succinate in the final step of GABA catabolism. Mutations in this gene lead to enzyme deficiency, resulting in the accumulation of GABA and gamma-hydroxybutyric acid (GHB), both of which contribute to the neurological manifestations of the disorder.
Who Should Consider ALDH5A1 Genetic Testing?
Clinical Indications and Symptoms
This specialized genetic test is recommended for individuals presenting with:
- Unexplained developmental delays in infancy or childhood
- Progressive neurological deterioration
- Seizure disorders unresponsive to conventional treatments
- Hypotonia (reduced muscle tone) and motor coordination difficulties
- Speech and language delays
- Behavioral abnormalities including hyperactivity and aggression
- Sleep disturbances and autonomic dysfunction
- Family history of SSADH deficiency or unexplained neurological disorders
High-Risk Populations
Genetic testing is particularly important for:
- Children with developmental regression
- Individuals with abnormal organic acid profiles
- Patients with elevated GABA or GHB levels in cerebrospinal fluid
- Families planning pregnancy with history of metabolic disorders
- Siblings of diagnosed individuals for carrier status determination
Significant Benefits of Early Genetic Diagnosis
Timely identification of ALDH5A1 mutations provides numerous clinical advantages:
Personalized Treatment Strategies
Accurate genetic diagnosis enables healthcare providers to develop targeted treatment plans that address the specific metabolic abnormalities associated with SSADH deficiency. This may include dietary modifications, vitamin supplementation, and specific pharmacological interventions designed to modulate GABAergic neurotransmission.
Improved Prognostic Accuracy
Genetic testing results help clinicians provide more accurate prognostic information to families, allowing for better long-term planning and appropriate expectation management regarding developmental outcomes and potential complications.
Family Planning and Genetic Counseling
Identification of specific ALDH5A1 mutations facilitates accurate genetic counseling for family members, enabling informed reproductive decisions and appropriate carrier testing for at-risk relatives.
Access to Specialized Care
A confirmed genetic diagnosis often qualifies patients for specialized metabolic care, access to clinical trials, and connection with support networks specifically focused on SSADH deficiency and related metabolic disorders.
Understanding Your Genetic Test Results
Our comprehensive genetic testing report provides detailed interpretation of your results:
Positive Result Interpretation
A positive result indicates the presence of pathogenic mutations in the ALDH5A1 gene consistent with SSADH deficiency. This confirmation enables:
- Definitive diagnosis and elimination of diagnostic uncertainty
- Implementation of evidence-based management strategies
- Family member testing and genetic counseling
- Connection with specialized metabolic treatment centers
Negative Result Interpretation
A negative result suggests that no pathogenic variants were detected in the ALDH5A1 gene. However, this does not completely rule out SSADH deficiency, as rare mutations or technical limitations may occasionally occur. Further metabolic testing may be recommended if clinical suspicion remains high.
Variant of Uncertain Significance (VUS)
In some cases, genetic testing may identify variants whose clinical significance is currently unknown. Our genetic counseling team provides comprehensive guidance on the implications of VUS results and recommendations for follow-up testing or family studies.
Test Pricing and Service Details
| Test Component | Details |
|---|---|
| Test Name | ALDH5A1 Gene Succinic Semialdehyde Dehydrogenase Deficiency NGS Genetic DNA Test | Discount Price | $500 USD |
| Regular Price | $700 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood |
| Testing Methodology | Next-Generation Sequencing (NGS) |
| Specialty | Metabolic Genetics |
Pre-Test Requirements and Preparation
To ensure optimal testing outcomes, we require:
- Complete clinical history of the patient undergoing testing
- Genetic counseling session to discuss testing implications
- Development of detailed pedigree chart documenting family history
- Informed consent process explaining benefits and limitations
- Insurance pre-authorization when applicable
Nationwide Testing Availability
We provide comprehensive genetic testing services across the United States with convenient locations in major metropolitan areas including:
- New York City and surrounding tri-state area
- Los Angeles and Southern California region
- Chicago and Midwest locations
- Houston, Dallas, and Texas facilities
- Miami, Orlando, and Florida centers
- Philadelphia, Boston, and Northeast locations
- San Francisco, Seattle, and West Coast facilities
Our network of certified genetic counselors and metabolic specialists ensures consistent, high-quality care regardless of your location. We coordinate with local healthcare providers to facilitate seamless testing and result interpretation.
Take the Next Step Toward Genetic Clarity
If you or your loved one is experiencing symptoms suggestive of SSADH deficiency or has a family history of metabolic disorders, our ALDH5A1 genetic test provides the definitive answers you need. Early diagnosis can significantly impact treatment outcomes and quality of life.
Call our genetic specialists today at +1(267) 388-9828 to schedule your comprehensive genetic evaluation. Our team is available to discuss your concerns, answer questions about the testing process, and help you determine if ALDH5A1 genetic testing is appropriate for your situation.
Don’t let diagnostic uncertainty delay appropriate care. Take control of your genetic health with our advanced NGS testing technology and expert interpretation services. Book your appointment now to begin your journey toward accurate diagnosis and personalized treatment planning.
