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Test Code F11NG Hemophilia C, F11 Gene, Next-Generation Sequencing, Varies


Ordering Guidance


The clinical workup for factor XI deficiency begins with special coagulation testing for factor XI. Order F_11 / Coagulation Factor XI Activity Assay, Plasma.



Shipping Instructions


Ambient and refrigerated 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. 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: Whole blood

Container/Tube:

Preferred: Lavender top (EDTA)

Acceptable: Yellow top (ACD) or light-blue top (3.2% sodium citrate)

Specimen Volume: 3 mL

Collection Instructions:

1. Invert several times to mix blood.

2. Send whole blood specimen in original tube. Do not aliquot.

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. 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:

-Informed Consent for Genetic Testing (T576)

-Informed Consent for Genetic Testing-Spanish (T826)

2. If not ordering electronically, complete, print, and send a Coagulation Test Request (T753) with the specimen.

Useful For

Genetic confirmation of a factor XI deficiency diagnosis with the identification of known or suspected pathogenic alterations in the F11 gene

 

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

 

This test is not intended for prenatal diagnosis

Testing Algorithm

Genetic testing for factor XI deficiency should only be considered after coagulation screening is performed and if factor XI activity is less than 50% of normal (note: reference ranges may vary depending on the locally established reference range).

 

Genetic testing for factor XI deficiency is indicated if:

-Factor XI activity is reduced (less than 50% of normal)

-Acquired causes of factor XI have been excluded

Method Name

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

Reporting Name

F11 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) Performed

Varies

Report Available

21 to 28 days

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 US Food and Drug Administration.

CPT Code Information

81479

LOINC Code Information

Test ID Test Order Name Order LOINC Value
F11NG F11 Gene, Full Gene NGS 94239-1

 

Result ID Test Result Name Result LOINC Value
113060 F11NG Result 50397-9
113054 Alterations Detected 82939-0
113053 Interpretation 69047-9
113055 Additional Information 48767-8
113056 Method 85069-3
113057 Disclaimer 62364-5
113058 Panel Gene List 48018-6
113059 Reviewed By 18771-6