PCK2 Gene Phosphoenolpyruvate Carboxykinase Deficiency Mitochondrial NGS Genetic DNA Test
Understanding PCK2 Gene Deficiency
The PCK2 Gene Phosphoenolpyruvate Carboxykinase Deficiency Mitochondrial NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying rare metabolic disorders affecting mitochondrial function. Phosphoenolpyruvate carboxykinase (PEPCK) is a crucial enzyme in gluconeogenesis, the metabolic pathway that generates glucose from non-carbohydrate sources. The mitochondrial isoform, encoded by the PCK2 gene, plays a vital role in maintaining blood glucose levels during fasting periods.
This comprehensive genetic test utilizes Next Generation Sequencing (NGS) technology to analyze the PCK2 gene for mutations that disrupt normal enzyme function. When PCK2 gene mutations occur, they can lead to mitochondrial phosphoenolpyruvate carboxykinase deficiency, a rare autosomal recessive disorder that compromises the body’s ability to regulate glucose metabolism effectively.
What This Test Detects
The PCK2 Gene NGS Test specifically identifies:
- Pathogenic variants in the PCK2 gene located on chromosome 14q11.2
- Single nucleotide variants (SNVs) and small insertions/deletions (indels)
- Mutations affecting mitochondrial PEPCK enzyme function
- Genetic alterations that impair gluconeogenesis pathways
- Inherited patterns of mitochondrial metabolic dysfunction
Who Should Consider This Test
Clinical Indications and Symptoms
This test is recommended for individuals presenting with:
- Unexplained recurrent hypoglycemia, especially during fasting
- Developmental delays or failure to thrive in infancy
- Neurological symptoms including seizures or hypotonia
- Metabolic acidosis or lactic acidosis
- Family history of mitochondrial disorders or metabolic diseases
- Unexplained liver dysfunction or hepatomegaly
- Growth retardation despite adequate nutrition
- Suspected inborn errors of metabolism
Benefits of PCK2 Genetic Testing
Early and accurate diagnosis through PCK2 gene testing provides numerous advantages:
- Precise Diagnosis: Confirms mitochondrial PEPCK deficiency, eliminating diagnostic uncertainty
- Personalized Management: Enables targeted treatment strategies including dietary modifications
- Genetic Counseling: Provides essential information for family planning and recurrence risk assessment
- Proactive Monitoring: Facilitates early intervention for potential complications
- Research Contribution: Helps advance understanding of rare metabolic disorders
- Therapeutic Guidance: Informs appropriate medical management and emergency protocols
Understanding Your Test Results
Your PCK2 Gene NGS Test results will be carefully interpreted by our genetic specialists:
Possible Result Interpretations
- Positive Result: Identification of pathogenic variants confirms mitochondrial PEPCK deficiency diagnosis
- Negative Result: No disease-causing variants detected, though clinical correlation remains essential
- Variant of Uncertain Significance (VUS): Genetic changes with unclear clinical impact requiring further evaluation
- Carrier Status: Identification of individuals carrying one copy of a mutated gene
All positive results include detailed explanations of the specific mutation, inheritance patterns, and clinical implications. Our genetic counseling team provides comprehensive support to help you understand your results and make informed healthcare decisions.
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | PCK2 Gene Phosphoenolpyruvate Carboxykinase Deficiency Mitochondrial NGS Genetic DNA Test |
| Regular Price | $700 USD |
| Discount Price | $500 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) |
| Specialty | General Physician, Genetics |
| Disease Category | Metabolic Disorders |
Pre-Test Requirements
Before scheduling your PCK2 Gene Test, please ensure:
- Complete clinical history documentation for the patient
- Genetic counseling session to create a detailed family pedigree chart
- Identification of family members affected by similar metabolic symptoms
- Discussion of testing implications and potential outcomes
- Informed consent understanding the test’s purpose and limitations
Nationwide Testing Availability
We have diagnostic centers conveniently located across the United States, serving major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our network of certified genetic testing facilities ensures accessible, reliable testing services nationwide.
Take Control of Your Metabolic Health
Don’t let unexplained metabolic symptoms compromise your quality of life. The PCK2 Gene Phosphoenolpyruvate Carboxykinase Deficiency Mitochondrial NGS Genetic DNA Test provides the clarity needed for proper diagnosis and management of this rare metabolic condition. Our team of genetic specialists and metabolic physicians are ready to support you through every step of the testing process.
Ready to schedule your test? Contact our genetic counseling team today at +1(267) 388-9828 or book your appointment online. Take the first step toward understanding your metabolic health and ensuring proper management of potential mitochondrial disorders.
