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Test ID F2NGS F2 Gene, Next-Generation Sequencing, Varies


Advisory Information


This genetic test should only be considered if clinical and family history, initial coagulation screens, and initial factor II (FII) tests (activity and antigen) indicate a diagnosis of factor II deficiency.

 

This test is not intended to evaluate for the F2 c.*97G>A alteration (historically known as G20210A) associated with prothrombin-related thrombophilia. If testing for the F2 c.*97G>A alteration (G20210A) is desired instead of full-gene sequencing, order PTNT / Prothrombin G20210A Mutation, Blood.



Shipping Instructions


Ambient and refrigerate specimens must arrive within 7 days (168 hours of draw), and frozen specimens must arrive within 14 days (336 hours of draw).

 

Collect and package specimen as close to shipping time as possible.



Necessary Information


Rare Coagulation Disorder Patient Information is required, see Special Instructions. Testing may proceed without the patient information, however, the information aids in providing a more thorough interpretation. Ordering providers are strongly encouraged to fill out the form and send with the specimen.



Specimen Required


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


Forms

1. Rare Coagulation Disorder Patient Information (T824) is required, see Special Instructions. Fax the completed form to 507-284-1759.

2. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available in Special Instructions:

-Informed Consent for Genetic Testing (T576)

-Informed Consent for Genetic Testing-Spanish (T826)

Useful For

Ascertaining a causative alteration in F2 and the affected region of prothrombin protein in an individual clinically diagnosed with factor II deficiency

 

Carrier testing for close family members of an individual with a factor II deficiency diagnosis

 

This test is not intended for prenatal diagnosis.

Genetics Test Information

This test detects pathogenic alterations in the F2 gene to delineate the underlying molecular defect in a patient with a laboratory diagnosis of factor II (prothrombin) deficiency (F2D).

The gene target for this test is:

Gene name (transcript): F2 (GRCh37 [hg19] NM_000506)

Chromosomal location: 11p11.2

Testing Algorithm

The clinical workup for factor II deficiency (F2D) begins with special coagulation testing for factor II. See  F_2 / Coagulation Factor II Activity Assay, Plasma.

 

Genetic testing for F2D is indicated if:

-Prothrombin (factor II) activity is reduced (less than 80% of normal)

-Acquired causes of factor II deficiency have been excluded (eg, vitamin K deficiency, warfarin anticoagulation use, liver disease, etc)

 

Prothrombin antigen testing, to distinguish between type I and type II deficiencies, may be helpful in cases where genetic testing results yield variants of uncertain significance.

Method Name

Custom Sequence Capture and Targeted Next-Generation Sequencing (NGS) followed by Polymerase Chain Reaction (PCR) and Sanger Sequencing when appropriate

Reporting Name

F2 Gene, Full Gene NGS

Specimen Type

Varies

Specimen Minimum Volume

Blood: 1 mL
Extracted DNA: 100 mcL at 50 ng/mcL concentration

Specimen Stability Information

Specimen Type Temperature Time Special Container
Varies Ambient (preferred) 7 days
  Frozen  14 days
  Refrigerated  7 days

Reference Values

An interpretive report will be provided

Day(s) and Time(s) Performed

Performed weekly; Varies

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Test Classification

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. Food and Drug Administration.

CPT Code Information

81479

LOINC Code Information

Test ID Test Order Name Order LOINC Value
F2NGS F2 Gene, Full Gene NGS 24476-4

 

Result ID Test Result Name Result LOINC Value
113019 F2NGS Result 50397-9
113013 Alterations Detected 82939-0
113012 Interpretation 69047-9
113014 Additional Information 48767-8
113015 Method 85069-3
113016 Disclaimer 62364-5
113017 Panel Gene List 24477-2
113018 Reviewed By 18771-6

NY State Approved

Yes