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Test ID F12NG F12 Gene, Next-Generation Sequencing, Varies


Advisory Information


Genetic testing for factor XII deficiency typically has little clinical utility. Caution in ordering is advised.

 

For hereditary angioedema type III, genetic testing should only be considered when there is a documented family history of angioedema that does not respond to chronic, high-dose antihistamine therapy, normal complement studies, normal C1 inhibitor level and function, and no exposure to medications that could cause angioedema, such as angiotensin-converting enzyme (ACE) inhibitors or nonsteroidal anti-inflammatory drugs.



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, 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

Genetic confirmation of hereditary angioedema (HAE) type III with the identification of an alteration in the F12 gene known or suspected to cause the condition

 

Testing for close family members of an individual with an HAE type III diagnosis

 

Genetic confirmation of factor XII deficiency with the identification of an alteration in the F12 known or suspected to cause the condition

 

This test is not intended for prenatal diagnosis

Genetics Test Information

This test detects pathogenic alterations in the F12 gene to delineate the underlying molecular defect in a patient with a laboratory diagnosis of factor XII deficiency or hereditary angioedema with normal C1 inhibitor (FXII-HAE).

 

The gene target for this test is:

Gene name (transcript): F12 (GRCh37 [hg19] NM_000505)

Chromosomal location: 5q35.3

Testing Algorithm

Factor XII deficiency:

Special coagulation testing for factor XII (F_12 / Coagulation Factor XII Activity Assay, Plasma) should be performed prior to any genetic testing.

 

Genetic testing for factor XII deficiency may be considered if:

-Factor XII activity is reduced (less than 55% of normal)

-Acquired causes of factor XII have been excluded

 

Hereditary angioedema type III (FXII-HAE):

An international consortium has established a testing and diagnostic algorithm for the identification of hereditary angioedema (HAE) type III.(1)

Method Name

Custom Sequence Capture and Targeted Next-Generation Sequencing (NGS) Followed by Polymerase Chain Reaction (PCR) and Sanger Sequencing When Appropriate

Reporting Name

F12 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
F12NG F12 Gene, Full Gene NGS 58937-4

 

Result ID Test Result Name Result LOINC Value
113068 F12NG Result 50397-9
113062 Alterations Detected 82939-0
113061 Interpretation 69047-9
113063 Additional Information 48767-8
113064 Method 85069-3
113065 Disclaimer 62364-5
113066 Panel Gene List 58902-8
113067 Reviewed By 18771-6

NY State Approved

Yes