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:

• Predicting disease severity
• Understanding the potential for inhibitor development
• Identifying mutations to guide therapy selection 

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.

Testing

• Antithrombin Deficiency, SERPINC1 Gene, Next-Generation Sequencing (Mayo ID: ATNGS)
• F2 Gene, Next-Generation Sequencing (Mayo ID: F2NGS)
• F5 Gene, Next-Generation Sequencing (Mayo ID: F5NGS)
• Factor VII Deficiency, F7 Gene, Next-Generation Sequencing (Mayo ID: F7NGS)
• Hemophilia A, F8 Gene, Next-Generation Sequencing (Mayo ID: F8NGS)
• Hemophilia B, F9 Gene, Next-Generation Sequencing (Mayo ID: NGSF9)
• Factor X Deficiency, F10 Gene, Next-Generation Sequencing (Mayo ID: F10NG)
• Hemophilia C, F11 Gene, Next-Generation Sequencing (Mayo ID: F11NG)
• F12 Gene, Next-Generation Sequencing (Mayo ID: F12NG)
• F13A1 and F13B Genes, Next-Generation Sequencing (Mayo ID: F13NG)
• Congenital Fibrinogen Disorders, FGA, FGB, and FGG Genes, Next-Generation Sequencing (Mayo ID: FIBNG)
• THBD Gene, Next-Generation Sequencing (Mayo ID: THBNG)
• von Willebrand Disease, VWF Gene, Next-Generation Sequencing (Mayo ID: VWFNG)
• Protein C Deficiency, PROC Gene, Next-Generation Sequencing (Mayo ID: PCNGS)
• Protein S Deficiency, PROS1 Gene, Next-Generation Sequencing (Mayo ID: PRSNG)
• PROCR Gene, Next-Generation Sequencing (Mayo ID: PRCNG)

Useful for:

• Detecting pathogenic or causative alterations, understanding the likelihood of inhibitor development, predicting disease severity, and familial or carrier testing.

Specimen Requirements

Specimen Type 

Varies

Submit only 1 of the following specimens:

Specimen Type: Peripheral blood

Container/Tube:

Preferred: Lavender top (EDTA)

Acceptable: Yellow top (ACD) or green top (sodium citrate)

Specimen Volume: 3 mL

Collection Instructions:

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

Collection Instructions:

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

Performance Information

Day(s) and Time(s) Test Performed 

Performed weekly; Varies

Analytic Time 

21 days