Reanalysis Report (Challenge Card)
Second-look analysis of a previous negative or inconclusive genomic test
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 | Challenge Card — reanalysis of existing data |
|---|---|
| Genome build | GRCh38 [lifted over from GRCh37: yes / no] |
| Original test | [WES / WGS / panel], [laboratory], report date [DD Month YYYY] |
| Original result | [Negative / VUS / inconclusive] |
| Data received | [FASTQ / BAM / CRAM / VCF], [date] |
| Reason for reanalysis | [New symptoms / time since test / family request] |
3What changed since the original analysis
- [New gene–disease associations published since the original report]
- [Updated pipeline and variant callers]
- [Updated phenotype (HPO terms)]
- [Updated population and clinical databases]
4Reanalysis findings
| Gene | Transcript | Variant (HGVS) | Zygosity | Inheritance | Classification |
|---|---|---|---|---|---|
| [GENE] | [NM_ / MANE] | [c. ] [p. ] | [Het / Hom / Hemi] | [AD / AR / XL / de novo] | [Pathogenic / Likely path. / VUS] |
5Comparison with the original report
| Variant | Original classification | Current classification | Reason for change |
|---|---|---|---|
| [GENE c. ] | [VUS] | [Likely pathogenic] | [New evidence: …] |
Outcome
[New diagnostic finding / reclassification / no change: remains negative]
6Interpretation
[Explain the clinical significance of the new findings and how they relate to the original result.]
7Limitations
- Reanalysis depends on the quality and completeness of the data supplied; regions not covered in the original data cannot be assessed.
- Where only a VCF was supplied, variant calling could not be repeated.
8Recommendations
- Discuss the outcome with the original laboratory and the referring clinician.
- Consider a further reanalysis in 12–24 months if the result remains negative.
9Sign-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] |
10Important 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].
Tribro-Omics · Reanalysis Report (Challenge Card) · Confidential: contains personal health information