CLPB Gene 3-Methylglutaconic Aciduria Type 7 with Cataracts, Neurologic Involvement and Neutropenia NGS Genetic DNA Test
Understanding CLPB Gene 3-Methylglutaconic Aciduria Type 7
3-Methylglutaconic aciduria type 7 is a rare inherited metabolic disorder caused by mutations in the CLPB gene, which plays a crucial role in mitochondrial protein quality control. This condition represents a complex multisystem disorder affecting various bodily functions, particularly neurological development, vision, and immune system function. The CLPB gene encodes a protein essential for maintaining mitochondrial integrity and function, and when mutated, leads to the accumulation of 3-methylglutaconic acid in bodily fluids.
What This Test Detects
Our advanced NGS Genetic DNA Test specifically targets the CLPB gene to identify pathogenic variants responsible for 3-methylglutaconic aciduria type 7. The test comprehensively analyzes:
- Point mutations, insertions, and deletions in the CLPB gene
- Genetic variations affecting mitochondrial protein quality control
- Mutations associated with metabolic pathway disruptions
- Genetic markers linked to neurological impairment
- Variants connected to cataract development and neutropenia
Who Should Consider This Test
Clinical Indications and Symptoms
This genetic test is recommended for individuals presenting with the following symptoms or clinical features:
- Developmental delays or regression in infants and children
- Early-onset cataracts or vision abnormalities
- Recurrent infections due to neutropenia (low neutrophil count)
- Neurological symptoms including seizures, ataxia, or movement disorders
- Metabolic acidosis or abnormal organic acid profiles
- Family history of similar metabolic or neurological conditions
- Unexplained developmental disorders with multisystem involvement
Benefits of CLPB Gene Testing
Undergoing this comprehensive genetic analysis provides numerous advantages for patients and families:
- Accurate Diagnosis: Confirms or rules out 3-methylglutaconic aciduria type 7 with high precision
- Personalized Treatment: Enables targeted therapeutic interventions based on genetic findings
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Early Intervention: Facilitates prompt management of neurological and metabolic complications
- Prognostic Insights: Helps predict disease progression and potential complications
- Comprehensive Care: Guides multidisciplinary approach involving neurologists, ophthalmologists, and immunologists
Understanding Your Test Results
Our genetic counseling team provides comprehensive interpretation of your CLPB gene test results:
- Positive Result: Indicates the presence of pathogenic CLPB gene mutations, confirming diagnosis of 3-methylglutaconic aciduria type 7
- Negative Result: Suggests absence of known disease-causing mutations in the CLPB gene
- Variant of Uncertain Significance: Identifies genetic changes with unclear clinical implications requiring further evaluation
- Carrier Status: Determines if individuals carry one copy of a mutated gene without showing symptoms
All results include detailed explanations and recommendations for next steps in management and follow-up care.
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | CLPB Gene 3-Methylglutaconic Aciduria Type 7 with Cataracts, Neurologic Involvement and Neutropenia NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
| Testing Method | Next-Generation Sequencing (NGS) Technology |
| Specialty | Metabolic Genetics |
Pre-Test Requirements
Before scheduling your test, we recommend:
- Complete clinical history documentation of the patient
- Genetic counseling session to create a detailed family pedigree
- Discussion of testing implications and potential outcomes
- Review of insurance coverage and financial considerations
Nationwide Accessibility
We have diagnostic centers conveniently located across the United States, including major metropolitan areas such as New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our network ensures accessible genetic testing services for patients throughout the country.
Take the Next Step Toward Diagnosis
If you or your loved one is experiencing symptoms suggestive of 3-methylglutaconic aciduria type 7, don’t delay in seeking genetic clarification. Our specialized genetic testing provides the answers needed for proper diagnosis and management of this complex metabolic disorder.
Call us today at +1(267) 388-9828 to schedule your CLPB Gene NGS DNA Test or to speak with our genetic counseling team. Early detection through comprehensive genetic analysis can significantly impact treatment outcomes and quality of life for individuals affected by this rare metabolic condition.
