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

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Useful For Suggests clinical disorders or settings where the test may be helpful

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 Provides information that may help with selection of the correct genetic test or proper submission of the test request

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 Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

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

Special Instructions Library of PDFs including pertinent information and forms related to the test

Method Name A short description of the method used to perform the test

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

NY State Available Indicates the status of NY State approval and if the test is orderable for NY State clients.

Yes

Reporting Name Lists a shorter or abbreviated version of the Published Name for a test

F13A1 and B Genes, Full Gene NGS

Aliases Lists additional common names for a test, as an aid in searching

Factor 13 deficiency
FXIIID
F13D
FXIIIA1
FXIIIB
Factor XIII subunit B deficiency
Factor XIII subunit A deficiency
Factor XIIIB deficiency
Factor XIIIA deficiency
Fibrin stabilizing factor deficiency