Home > Selected Past Studies

SELECTED PAST STUDIES - Genetic & Rare Diseases

Study

Disease

type & number of samples

Specific Requirements

associated data required

GD-1

Muscular Dystrophy

Frozen Muscular Tissue and Matched Serum

Retrospective

More than 10 subjects

  • Dysferlinopathy and Miyoshi Myopathy
  • Age, gender, ethnicity
  • Sample collection date
  • Date of diagnosis
  • Clinical data

GD-2

Leigh syndrome

Plasma

Retrospective

More than 12 subjects

  • Confirmed diagnosis with Leigh Disease
  • Age, gender, ethnicity
  • Symptoms and diagnosis report
  • Medical history
  • Medical follow-up
  • Treatment history
  • Type of mutations

GD-3

Fabry Disease

Plasma

Retrospective

More than 50 subjects

  • Confirmed diagnosis with Fabry Disease
  • Samples collected prior to Enzyme Replacement Therapy
  • Age, gender, ethnicity
  • Form of disease
  • Medical history
  • Treatment history
  • Type of GLA mutation

GD-4

G6PD deficiency

Whole Blood

Prospective

More than 8 subjects

  • G6PD status determined based on enzymatic activity of G6PD in the subject’s blood samples
  • Age, gender, ethnicity
  • Medical history