81250 G6PC (glucose-6-phosphatase, catalytic subunit) (eg, Glycogen storage disease, type 1a, von Gierke disease) gene analysis, common variants (eg, R83C, Q347X)

G6PC (Glucose-6-Phosphatase, Catalytic Subunit) Gene Analysis, Common Variants

Name of the Procedure:

Common Name: G6PC Gene Analysis
Medical Terms: Glucose-6-Phosphatase, Catalytic Subunit Gene Analysis; Testing for Glycogen Storage Disease Type 1a (GSD Ia), von Gierke Disease; Common Variants Analysis (e.g., R83C, Q347X)

Summary

The G6PC gene analysis is a test that examines the genetic sequence of the G6PC gene to identify mutations that can cause Glycogen Storage Disease Type 1a (von Gierke Disease). This genetic test looks at common variants such as R83C and Q347X to diagnose or confirm the presence of the disease.

Purpose

Medical Condition: Glycogen Storage Disease Type 1a (von Gierke Disease) Goals: The primary goal is to identify mutations in the G6PC gene that are known to cause GSD Ia. Early and accurate diagnosis can lead to better management and treatment of the disease.

Indications

Symptoms: Patients showing symptoms such as hypoglycemia, lactic acidosis, hyperlipidemia, poor growth, and hepatomegaly. Patient Criteria: Individuals with a family history of GSD Ia or presenting clinical symptoms suggestive of the disease.

Preparation

Pre-Procedure Instructions: No special preparation is typically required for the genetic test. It's performed using a blood sample or a cheek swab. Diagnostic Tests: A thorough clinical evaluation is recommended to correlate symptoms with possible genetic causes.

Procedure Description

1. Sample Collection: A small blood sample or cheek swab is collected.
2. DNA Extraction: DNA is extracted from the collected sample in the laboratory.
3. PCR Amplification: The specific regions of the G6PC gene are amplified using Polymerase Chain Reaction (PCR).
4. Gene Sequencing: The amplified DNA segments are sequenced to identify any mutations.
5. Data Analysis: Bioinformatic tools analyze the sequences to detect common variants such as R83C and Q347X.

Tools and Equipment: Blood collection kit, cheek swab kit, PCR machine, gene sequencing technology.

Anesthesia: Not applicable.

Duration

The process of obtaining and analyzing results typically takes several weeks.

Setting

The initial sample collection is usually performed in a clinical setting (hospital or outpatient clinic), while the actual analysis is done in a specialized laboratory.

Personnel

Healthcare Professionals: Clinical geneticist, medical lab technicians, and possibly a genetic counselor.

Risks and Complications

The procedure is minimally invasive with minor risks associated with blood sample collection, such as slight bruising or infection.

Benefits

Expected Benefits: Accurate diagnosis of GSD Ia, enabling targeted treatment strategies and better disease management. Realization Time: Results are available within a few weeks, guiding immediate or long-term medical interventions.

Recovery

Post-Procedure Care: No special care is required post sample collection. Expected Recovery Time: Immediate; there are no restrictions post-procedure. Follow-Up: Possible genetic counseling and follow-up appointments to discuss results and management plans.

Alternatives

Other Options: Clinical diagnosis based on symptoms and biochemical tests, other genetic tests. Pros and Cons: Alternative methods might not offer as definitive a diagnosis as gene analysis but can be useful when genetic testing is inconclusive.

Patient Experience

During Procedure: Minimal discomfort during blood draw; almost none for cheek swab. After Procedure: No significant pain; normal daily activities can be resumed immediately. Any discomfort from the blood draw (if performed) is typically minor and temporary.