Whole Genome Sequencing (WGS)
WGS analyses coding and non-coding regions across the genome. It offers broader coverage than a targeted panel or whole exome sequencing and may be considered for complex or unresolved genetic conditions.
What WGS Can Assess
- Single-nucleotide variants and small insertions or deletions across a broad genomic range.
- Selected copy-number and structural variants, depending on the validated analysis pipeline.
- Variants outside protein-coding regions when evidence supports clinical interpretation.
When WGS May Be Considered
A clinician may consider WGS when a broad genetic cause is suspected, earlier tests are inconclusive, or the phenotype does not point to a single panel. Family samples may improve interpretation.
Important Limitations
WGS does not detect or interpret every possible genetic change. Coverage, variant classes, repeat expansions, mosaicism, and difficult genomic regions may require additional testing. A negative result does not exclude a genetic condition.
Testing at Jaipur Molecular Lab
Contact our team to confirm sample requirements, reportable variant classes, family-testing options, and the expected reporting timeline.
This information is for general education and does not replace medical advice. Test selection and interpretation should be discussed with a qualified clinician or genetic counsellor.