TEST CATALOG ORDERING & RESULTS SPECIMEN HANDLING CUSTOMER SERVICE EDUCATION & INSIGHTS
Test Catalog

Test ID: KCNN4    
KCNN4 Full Gene Sequencing, Varies

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

Genetic confirmation of a dehydrated hereditary stomatocytosis (DHSt) 2/hereditary xerocytosis diagnosis with the identification of an alteration known or suspected to cause disease in the KCNN4 gene

 

Second-tier testing for patients in whom previous targeted gene variant analyses were negative for a specific RBC membrane disorder

 

Establishing a diagnosis of a hereditary RBC membrane disorder, allowing for appropriate management and surveillance of disease features based on the gene involved, especially if splenectomy is a consideration

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 KCNN4 gene which are associated with hereditary stomatocytosis.

 

The gene target for this test includes the following:

Gene name (transcript): KCNN4 (GRCh37 (hg19) NM_002250)

Chromosomal location: chr19q13.31

Highlights

This test should be used as an adjunct to abnormal RBC membrane studies.

-Variants in KCNN4 are associated with rare red cell membrane disorder dehydrated hereditary stomatocytosis, which causes chronic hemolytic anemia.

-Informative protein studies (eg, osmotic fragility, ektacytometry) and peripheral blood findings, correlated with the patient clinical history, should be performed prior to genetic testing.

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

Polymerase Chain Reaction (PCR) Amplification /Sanger Sequence Analysis

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

KCNN4 Full Gene Sequencing, V

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

DHS2
DHSt 2
Potassium calcium-activated channel subfamily N member 4