What does a 3billion clinical report include?
Last modified: May 16, 2022

A 3billion clinical report consists of the following sections:

1. Order information

Sample information and ordering physician information are included.

  • Patient info: Unique Identifier, Sex, Date of birth, Ethnicity
  • Physician info: Physician name, Department, Email, Phone number
  • Institution info: Institution name, Address
  • Sample info: Sample type, Sample collection date, Sample accessioning date

2. Test results

Clinically significant genetic variants (pathogenic, likely pathogenic, VUS) are reported according to HGVS nomenclature. Chromosome location, genome build (reference genome assembly and version number), gene (HUGO Gene nomenclature committee gene name), cDNA change, amino acid change, zygosity, inheritance status, and variant classification are described. Disorder information associated with the reported genetic variants is included.

3. Result interpretation

The basis of the overall clinical interpretation according to the 2015 ACMG/AMP guideline for the reported genetic variants (pathogenic/likely pathogenic variant, or VUS) is provided.

4. Secondary findings (if opted into and if any)

Pathogenic or likely pathogenic variants in the 73 genes that the ACMG recommends to report on are provided.

5. Recommendations

Technical limitations, such as the types of variants that cannot be detected, that supplemental testing should be performed if necessary and additional testing that may be done, and recommendations, such as genetic counseling, are provided.

6. Test Methods

Test methods and sequencing stats are described. Sample source is also described.

7. Disclaimer

A description that the testing was developed by the laboratory, what quality guidelines were followed, and whether the laboratory/test is certified is provided.