Citrullinemia gene panel

Citrullinemia Gene Panel

Overview

The Citrullinemia Gene Panel is a genetic test used to identify disease-causing variants associated with Citrullinemia, a rare inherited urea cycle disorder. This test helps confirm the diagnosis, identify carriers, support genetic counseling, and assist in prenatal or family planning decisions.

Why This Test is Done

• Confirm suspected Citrullinemia
• Diagnose unexplained high blood ammonia (hyperammonemia)
• Identify carriers in at-risk families
• Support prenatal and preimplantation genetic testing
• Guide clinical management and genetic counseling

Common Genes Analyzed

Depending on the panel, genes may include:

• ASS1 – Associated with Citrullinemia Type I
• SLC25A13 – Associated with Citrin Deficiency (Citrullinemia Type II)
• Additional urea cycle disorder-related genes may be included in expanded panels.

Symptoms That May Require Testing

• Elevated blood ammonia levels
• Poor feeding in newborns
• Vomiting
• Seizures
• Lethargy
• Developmental delay
• Intellectual disability
• Confusion or altered mental status
• Liver dysfunction

Sample Required

• Peripheral blood (EDTA)

Method

• Next-Generation Sequencing (NGS)
• Variant confirmation by Sanger Sequencing (if required)

Preparation

• No fasting or special preparation required.

Who Should Consider This Test?

• Infants or children with suspected urea cycle disorders
• Individuals with unexplained hyperammonemia
• Patients with a family history of Citrullinemia
• Couples planning pregnancy with a known family history
• Relatives of affected individuals for carrier screening

Benefits

• Accurate molecular diagnosis
• Early detection for timely treatment
• Informed reproductive planning
• Risk assessment for family members
• Personalized clinical management

Turnaround Time

Approximately 3–6 weeks (may vary depending on laboratory workflow).

Interpretation

• Positive: A pathogenic or likely pathogenic variant associated with Citrullinemia is detected.
• Negative: No clinically significant variant identified in the tested genes.
• Variant of Uncertain Significance (VUS): A genetic change is detected, but its clinical significance is currently unclear and may require further evaluation.

Note: Genetic test results should always be interpreted alongside clinical findings, biochemical investigations, and genetic counseling.