Genetic Testing for Rare Diseases and Hereditary Genetic Disorders

Genetic testing uses laboratory methods to look at the genes, which are the DNA instructions inherited from mother and father. Genetic tests may be used to diagnose rare diseases, identify genetic factors that increase the risks of health problems, find genetic changes that could be passed to the children, screen newborns for certain treatable conditions, guide doctors to choose the best medicine and correct dose for certain individuals, or to assess responses to treatments. Our mission at myGenomics is to make clinical testing available to people with rare genetic conditions. We offer a variety of services to best meet your budget and experimental needs. Customized solutions are also available!

Sample requirements

Genomic DNA (1-2 micrograms) / 2ml whole blood in lavender top tube / 2ml Saliva (kits available at $15) / 2ml Plasma or Serum / Cells / Tissue / FFPE sections.

Turnaround time: Sample-Data

10-30 days (more samples, faster TAT).


VCF (Variant Call File). BWA mapping, GATK variant call, Filter for Variant Allele Frequency (1000 genome), Filter for known pathogenic variants (dbSNP) or suspect variants (Frameshift, Stop gain, Stop loss), SIFT score, Polyphen score and associated Clinvar disease names and Clinvar accession numbers. Advanced and custom analyses also available.
Additional deliverables: Initial sample QC, Library prep QC, Target enrichment QC, Sequencing reads QC, Coverage and FastQC plots


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Whole Genome Sequencing

Indexed library preparation and sequencing on Illumina MiSeq or HiSeq depending on the data size requirements.

Any species: Human, Mouse, Plants, Eukaryotes, Prokaryotes, Microbes, De novo…..

Whole Exome Sequencing

Agilent SureSelect All Exon v6 capture and analysis. Additional exome sequencing solutions available as listed above


  • Breast Cancer panel
  • Prostate Cancer panel
  • Ovarian Cancer panel
  • Colorectal Cancer panel
  • Myeloid Neoplasm panel
  • Acute Myeloid Leukemia panel

  • Liver Cancer panel
  • Lung Cancer panel
  • Gastric Cancer panel
  • Comprehensive Cancer panel
  • Cardiomyopathy panel
  • Autism panel

  • Cancer HotSpot or Cancer Predisposition panel
  • Clinically Relevant Tumor panel
  • Tumor Actionable Mutations panel
  • Clinically Actionable Gene panel
  • Pharmacogenetics panel
  • Custom panels made to order

Custom Target Sequencing

myGenomics specializes in Custom target capture design and have several approaches at our disposal. Please provide the details of your target of interest and our R&D team can provide consultation on the most effective and cost-efficient approach to achieve the aim.

Any gene, Any target, Any species, Any number of samples

ChIP- Sequencing

Indexed library preparation with QC reporting and analysis as requested. QC report includes overall metrics for all reads in the BAM file, coverage and QC plots.

Mitochondrial DNA Sequencing

Target enrichment, Indexed library preparation and Sequencing at >1,000x coverage. Can be combined with nuclear genes involved in mitochondrial disease panel. Analysis include variant calling and %heteroplasmy.