Manual method
- Identify the testing laboratory, sample/date and report reference.
- Ask its records service which report, VCF, BAM/CRAM, FASTQ and indexes are available, their total size, reference genome and delivery deadline. For example, Invitae’s patient FAQ directs patients to Client Services to request a BAM file; this is separate from downloading a report.
- Use the laboratory’s authenticated download or encrypted-drive process; download every part before expiry.
- Compare the supplied manifest/checksums and store the laboratory’s explanation of missing or unavailable formats.
Coverage and limitations: No universal portal exists and not every lab retains every intermediate file. The linked HHS explanation applies to US HIPAA-covered labs, not worldwide. This guide preserves files; it does not interpret variants.
Size and time to allow
Illustrative planning size: 100 GB; scenario range 0.001–300 GB. This is a storage-planning example, not a measured average. Your archive may be smaller or larger. Illustrative sequencing delivery: 100 GB of compressed reads/alignment files. A report-only PDF may be under 1 MB; coverage and format dominate.
Preparation and hands-on time: Request fulfillment is laboratory-specific. Obtain a written estimate; allow hours for a 100 GB transfer on slower connections plus verification.
For the 100 GB example, network transfer alone is approximately:
| Connection download speed | Transfer estimate |
|---|---|
| 10 Mbit/s | 31.7 hr |
| 50 Mbit/s | 6.3 hr |
| 100 Mbit/s | 3.2 hr |
These calculations use decimal GB and 70% of the advertised speed. Tiny transfers can take longer because of startup overhead. Local exports do not need an internet download; use these numbers only for a network transfer. Preparation, retries, extraction, checking and a cloud upload are additional; use upload speed for the latter.
Where and how to keep it
Use an encrypted external SSD/HDD with enough free space for originals, extraction and a second checked copy. A small USB key is unsuitable for this example. An encrypted off-site cloud copy is useful if its quota and your upload speed are sufficient. Genetic files can also reveal information about relatives; keep access limited and store the recovery key separately.
Create a dated clinical_genetics/YYYY-MM-DD/ folder. Keep received originals unchanged, use a separate working copy, and note the account/profile, selected dates, formats and known gaps in a private README. Compare file sizes, check any supplied checksums, and open sample files from the backup before considering the task finished. Repeat after meaningful additions. Follow the storage, archive-checking and large-file guide.
Sources and review
Public documentation was reviewed on 27 October 2026. No signed-in export or restoration was performed. Account options and availability can change; follow the current provider instructions.