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Constitutional Genomics

Constitutional DNA is the source of DNA for all other cells in the body; it’s also known as germline DNA (egg and sperm cells that join to create an embryo).

Whole Genome and Whole Exome Sequencing

A female scientist in a dark lab room carrying out DNA sequencing.

Cerba Research is proud to offer whole genome and whole exome sequencing as follows:

  • A whole exome sequencing with 22,000 genes.
  • Clinical exome sequencing with 6,000 genes, including SNPs (single nucleotide polymorphisms), CNVs (copy number variations), and indels.
  • 100+ panels for your rare disorder clinical trial.
  • Possibility to have any custom panel for whole exome sequencing by informatics filtering.

Constitutional (germline) variants are present in all the body’s cells, including germ cells (egg and sperm cells), and can be passed onto offspring. This is as opposed to somatic variants which arise during an individual’s lifetime in tissues other than the germ cells and are therefore not passed on.

100+ Panels Covering a Wide Range of Hereditary Disorders

  • Chronic granulomatous disease comprehensive panel
  • Neutropenia comprehensive panel
  • Immunodeficiency comprehensive median consensus panel
  • Ehlers-Danlos syndrome comprehensive panel
  • Marfan syndrome comprehensive panel
  • Connective tissue disorders comprehensive panel
  • Familial hypercholesterolemia and dyslipidemia comprehensive panel
  • Hearing loss comprehensive panel
  • Monogenic diabetes comprehensive panel
  • Hyperinsulinism hypoglycemia comprehensive panel
  • Monogenic obesity comprehensive panel
  • Bone marrow failure comprehensive panel
  • Optic atrophy comprehensive panel
  • Macular dystrophy comprehensive panel
  • Nephrotic syndrome comprehensive panel
  • Skin disease comprehensive panel
  • Neuromuscular disorders comprehensive panel
  • Epilepsy comprehensive panel
  • Hereditary pancreatitis comprehensive panel
  • And more…
Cerba US Expansion Tour VF.00_04_27_19.Still010

Don’t hesitate to contact us for your constitutional genomic inquiries!

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