While the diagnosis of bleeding and thrombosing disorders still relies on specialized coagulation assays, the utility of genotype assays is ever increasing in the space. Next-generation sequencing (NGS) testing can provide useful information for clinicians in several ways including:
Created to meet the growing needs of our own clinical practice, Mayo Clinic now offers comprehensive NGS full gene sequencing menus for patients with bleeding and thrombosing disorders.
Rajiv Pruthi, M.B.B.S., gives an overview of this testing available through Mayo Clinic Laboratories. He discusses when this testing should be ordered, how this testing compares to previous testing approaches, and what clinical action can be taken due to the results of this testing.
Submit only 1 of the following specimens:
Specimen Type: Peripheral blood
Preferred: Lavender top (EDTA)
Acceptable: Yellow top (ACD) or green top (sodium citrate)
Specimen Volume: 3 mL
1. Invert several times to mix blood.
2. Send specimen in original tube.
Specimen Stability: Ambient (preferred)/Refrigerated/Frozen
Specimen Type: Extracted DNA
Container/Tube: 1.5- to 2-mL tube
Specimen Volume: Entire specimen
1. Label specimen as extracted DNA and source of specimen.
2. Provide indication of volume and concentration of the DNA.
Specimen Stability: Frozen (preferred)/Refrigerated/Ambient
Day(s) and Time(s) Test Performed
Performed weekly; Varies