Test Catalog

Test ID: NGENZ    
Red Blood Cell Enzyme 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 underlying RBC enzymopathy

 

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 Genes Interrogated by NGHHA 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 Enzyme Sequencing, V

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

AK
ALDOA
G6PD
GCLC
GPI
GSR
GSS
HK
HMOX1
P5NT
PFK
PGK
PK
PKLR
TPI
RBC enzymopathies
AK1
ALDOA deficiency
Adenlyate kinase deficiency
Aldolase A deficiency
G6PD deficiency
GCLC deficiency
GPI deficiency
GSR deficiency
GSS deficiency
Gamma-glutamylcysteine synthetase deficiency
Glucose phosphate isomerase deficiency
Glucose-6-phosphate-dehydrogenase deficiency
Glutathione reductase deficiency
Glutathione synthetase deficiency
Glycolytic enzyme deficiencies
HK deficiency
HK1
HMOX 1 deficiency
Hexokinase deficiency
NT5C3A
PFKM
PGK1
Phosphofructose kinase deficiency
Phosphoglycerate kinase deficiency
Phosphoglycerate kinase 1 deficiency
Pyrimidine 5' nucleotidase deficiency
Pyruvate kinase deficiency
Triosphosphate isomerase deficiency
TPI deficiency
TPI1