Targeted Gene Panel Report
Analysis restricted to a defined gene panel
1Patient and sample
| Patient name | [Surname, First name] |
|---|---|
| Patient ID / MRN | [ID] |
| Date of birth | [DD Month YYYY] |
| Sex | [Female / Male / Unknown] |
| Sample ID | [TBO-S-YYYY-NNNN] |
| Sample type | [EDTA blood / extracted DNA / saliva] |
| Collected | [DD Month YYYY] |
| Received | [DD Month YYYY] |
| Referring clinician | [Name, institution] |
| Clinical indication | [Phenotype summary; HPO terms, e.g. HP:0001250] |
2Test information
| Product | PANEL Tribro — targeted gene-panel analysis |
|---|---|
| Genome build | GRCh38 |
| Panel | [Panel name, version, number of genes] |
| Source of panel | [e.g. PanelApp panel name and version / custom] |
| Technology | [Targeted capture / amplicon / virtual panel from exome or genome] |
| Pipeline version | [TBO-PANEL vX.Y] |
3Results
| Gene | Transcript | Variant (HGVS) | Zygosity | Inheritance | Classification |
|---|---|---|---|---|---|
| [GENE] | [NM_ / MANE] | [c. ] [p. ] | [Het / Hom / Hemi] | [AD / AR / XL / de novo] | [Pathogenic / Likely path. / VUS] |
4Coverage of panel genes
| Gene | Transcript | Mean depth | Bases ≥ 20× | Comment |
|---|---|---|---|---|
| [GENE] | [NM_] | [ ]× | [ ] % | [Fully covered / gaps listed] |
5Genes with incomplete coverage
[None / list genes and exons below 20×. Variants in these regions cannot be excluded.]
6Interpretation
[Relate findings to the clinical question and the panel scope.]
7Quality metrics
| Metric | Result | Acceptance criterion |
|---|---|---|
| Mean depth across panel | [ ]× | ≥ 200× (capture) |
| Panel bases at ≥ 20× | [ ] % | ≥ 99 % |
| Contamination estimate | [ ] % | < 2 % |
8Gene list
[Complete list of genes analysed, or reference to the panel version.]
9Methods
Target regions of [N] genes were enriched with [method] and sequenced on [platform], or extracted in silico from exome/genome data. Alignment to GRCh38 with [aligner]; variant calling with [caller]; annotation and ACMG/AMP classification as described in the Tribro-Omics standard operating procedure.
10Limitations
- Only the genes listed are analysed; variants elsewhere in the genome are not reported.
- Large deletions and duplications are detected only where CNV analysis is stated as part of the panel.
- Regions with incomplete coverage are listed above; variants there cannot be excluded.
11Recommendations
- Genetic counselling.
- Consider exome or genome analysis if the panel result is negative and the phenotype is suggestive of a genetic cause.
12Sign-off
| Role | Name and qualification | Date |
|---|---|---|
| Analysed by (bioinformatics) | [Name, qualification] | [DD Month YYYY] |
| Reviewed by (clinical scientist) | [Name, qualification] | [DD Month YYYY] |
| Authorised by (laboratory director) | [Name, qualification] | [DD Month YYYY] |
13Important information
This report is intended for the referring clinician and must be interpreted together with the clinical findings, family history and other test results. Variant classification follows the ACMG/AMP 2015 standards (Richards et al., Genet Med 2015) and ClinGen Sequence Variant Interpretation recommendations. Classifications reflect the evidence available on the date of issue and may change. Genetic counselling is recommended when results are discussed with the patient. Report status: [Clinical / Research use only].