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

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

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

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 F11 gene to delineate the underlying molecular defect in a patient with a laboratory diagnosis of factor XI deficiency (FXID), a bleeding disorder also known as Hemophilia C.

 

The gene target for this test is:

Gene name (transcript): F11 (GRCh37 [hg19] NM_000128)

Chromosomal location: 4q35

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

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

 

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

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

F11 Gene, Full Gene NGS

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

Hemophilia C
Factor XI deficiency
Plasma thromboplastin antecedent deficiency
PTA
Rosenthal syndrome