**Test method**:

A TruSeq custom amplicon specific for the target regions of 19 genes, *ACTN1, CD36, F2R, FLI1, ETS1, GATA1, GFI1b, GP1BA, GP1BB, GP6, GP9, ITGA2, ITGA2B, ITGB1, ITGB3, MYH9, NBEAL2, P2RY12, RUNX1, TUBB1* was designed using Illumina design studio (Illumina, Inc, San Diego, CA, USA). Next-generation sequencing was performed using the MiSeq Illumina sequencer platform (Illumina, Inc.). Obtained sequences were aligned to the reference genome (GRCh37/hg19) using MiSeq reporter software (Illumina, Inc.) and the genomic datasets viewed using the Integrative Genomics viewer (IGV) (www.broadinstitute.org/igv/). Variant calls were generated using ANNOVAR software (http://www.openbioinformatics.org/ annovar) with an acceptance threshold Q-score of 30, corresponding to a 1:1000 error rate. Sanger sequencing was performed to provide data for bases with insufficient coverage. The University of California, Santa Cruz (UCSC), genome browser (http://genome.ucsc.edu) was used for variant analysis and variants were cross-checked against databases including the NHLBI-extended sequencing project (ESP), 1000 genomes project database and the Database of Single-Nucleotide Polymorphisms (dbSNP). Bioinformatic tools (SIFT, PolyPhen-2 and Mutation taster) were used to predict variant effects on protein structure and function in the cases of variants lacking published literature.

**Limitations:** Overall gene coverage was 97% using this format. Therefore, it is possible that the genomic region where a disease causing mutation exists in the proband was not captured and therefore was not detected.

It is also possible that a particular genetic mutation was not recognised as the underlying cause of the genetic disorder due to incomplete scientific knowledge of the impact of all variants at this point in the literature.

#### **Reported by:**

An example of a NGS report.
