Test Catalog

Test ID: NGMEM    
Red Blood Cell Membrane Sequencing, Varies

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

Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of an RBC membrane disorder

 

Second-tier testing for patients in whom previous targeted gene mutation 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 (4)

 

Identifying mutations within genes associated with phenotypic severity, allowing for predictive testing and further genetic counseling

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

See Targeted Gene Interrogated by NGMEM Next-Generation Sequencing in Special Instructions for a list of the genes and exons targeted by this test.

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

Hereditary Mutation Detection by Next-Generation Sequencing (NGS)

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

RBC Membrane Sequencing, V

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

RBC membrane disorders
ANK
Ankyrin
Spectrin
Band3
Protein 4.2
Protein 4.1
SPTA
STOM
Hereditary spherocytosis (HS)
Hereditary elliptocytosis (HE)
Hereditary xerocytosis
Southeast Asian ovalocytosis
ovalocytosis
ANK1
Dehydrated hereditary stomatocytosis
Elliptocytosis
EPB41
EPB42
GLUT1
GYPC
HE type 1
HE type 2
HE type 3
HE type 4
Hereditary pyropoikilocytosis (HPP)
HS type 1
HS type 2
HS type 3
HS type 4
HS type 5
PIEZO1
Pyropoikilocytosis
RHAG
SLC2A1
SLC4A1
SPTA1
SPTB
Stomatocytosis
Stomatin-deficient cryohydrocytosis
Xerocytosis
Hereditary stomatocytosis (HSt)
Overhydrated hereditary stomatocytosis