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Test ID F13NG F13A1 and F13B Genes, Next-Generation Sequencing, Varies


Advisory Information


Genetic testing should only be considered if reduced factor XIII activity is documented and acquired cases of low factor XIII are excluded.



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 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)

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

Useful For

Detecting the pathogenic alterations within the F13A1 and F13B genes to delineate the underlying molecular defect in a patient with a laboratory diagnosis of factor XIII deficiency

 

Genetic confirmation of hereditary factor XIII deficiency with the identification of an alteration in either the F13A1 or F13B gene known or suspected to cause the condition

 

Testing for close family members of an individual with a factor XIII deficiency diagnosis

 

This test is not useful for prenatal diagnosis

Genetics Test Information

This test detects pathogenic alterations within the F13A1 and F13B genes to delineate the underlying molecular defect in a patient with a laboratory diagnosis of factor XIII deficiency.

 

The gene targets for this test are:

Gene name (transcript): F13A1 (GRCh37 [hg19] NM_000129)

Chromosomal location: 6p24-p25

 

Gene name (transcript): F13B (GRCh37 [hg19] NM_001994)

Chromosomal location: 1q31-q32.1

Testing Algorithm

A standard testing algorithm for factor 13 deficiency (FXIIID) has been developed by the Scientific and Standardization Committee of the International Society for Thrombosis and Haemostasis (ISTH).(1)

 

Genetic testing for factor XIII deficiency is indicated if:

-Factor XIII activity (FXIII) is reduced on a qualitative functional FXIII activity test

-Acquired causes of factor XIII deficiency 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

F13A1 and B Genes, 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
F13NG F13A1 and B Genes, Full Gene NGS 92991-9

 

Result ID Test Result Name Result LOINC Value
113076 F13NG Result 50397-9
113070 Alterations Detected 82939-0
113069 Interpretation 69047-9
113071 Additional Information 48767-8
113072 Method 85069-3
113073 Disclaimer 62364-5
113074 Panel Gene List 48018-6
113075 Reviewed By 18771-6

NY State Approved

Yes