Overview: Whole Genome Mapping TestIntroduction: The Whole Genome Mapping Test maps the entire genome to identify genetic disorders, aiding in personalized treatment. Aligned with 2023 ACMG guidelines, it uses PCR for high specificity, aiding in genetic screening. This test is critical for guiding diagnosis, management, and improving outcomes in molecular pathology for patients with suspected genetic disorders.
Other Names: Whole Genome Sequencing Assay, Comprehensive Genetic Test.
FDA Status: Laboratory-developed test (LDT), meeting molecular pathology standards for diagnostic accuracy.
Historical Milestone: Whole genome sequencing began in the 2000s with the Human Genome Project. PCR-based assays improved in the 2010s, enhancing accuracy for genetic disorders.
Purpose: Identifies genetic disorders, guides personalized treatment, and monitors genomic variations in patients with suspected genetic conditions.
Test Parameters: 1. Whole Genome Sequencing
Pretest Condition: No fasting required. Collect whole blood, buccal swab, or saliva at any time. Report symptoms or family history of genetic disorders.
Specimen: 2-5 mL whole blood (EDTA), 1-2 buccal swabs (sterile swab), or 1-2 mL saliva (sterile container). Transport in a biohazard bag within 24 hours.
Sample Stability at Room Temperature: 24 hours
Sample Stability at Refrigeration: 48 hours
Sample Stability at Frozen: Not frozen
Medical History: Document symptoms or family history of genetic disorders. Include current medications or known genetic conditions.
Consent: Written consent required, detailing the tests purpose, diagnostic implications, and potential need for genetic counseling.
Procedural Considerations: Uses PCR-based sequencing to map the entire genome. Results are available in 3-5 days, supporting clinical decisions.
Factors Affecting Result Accuracy: Low DNA yield or contamination can affect results. Rare variants may require additional analysis.
Clinical Significance: Identified variants confirm genetic disorders, guiding treatment. Negative results may require targeted testing.
Specialist Consultation: Consult a geneticist for result interpretation.
Additional Supporting Tests: Targeted gene panels, exome sequencing, or clinical evaluations to confirm genetic disorders.
Test Limitations: Variants of unknown significance may complicate interpretation. Results require clinical correlation.
References: ACMG Genetic Guidelines, 2023; Genetics in Medicine, Green RC, 2022.
