Test Catalog

Test ID: NGHHA    
Hereditary Hemolytic Anemia Comprehensive Panel, Next-Generation 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 hereditary hemolytic anemias, including RBC membrane/hydration disorders, RBC enzymopathies and congenital dyserythropoietic anemia

 

Comprehensive testing for patients in whom previous targeted gene mutation analyses were negative for a specific hereditary hemolytic anemia

 

Establishing a diagnosis of a hereditary hemolytic anemia or related disorder, allowing for appropriate management and surveillance of disease features based on the gene involved, especially if splenectomy is a consideration (2)

 

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.

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

See NGHHA and Subpanel Comparison Gene List in Special Instructions.

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

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

Hereditary Hemolytic Anemia Seq, V

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

Hereditary nonspherocytic hemolytic anemia
Congenital hemolytic anemia
Adenlyate kinase deficiency
AK
AK1
ALDOA
Aldolase A deficiency
ALDOA deficiency
ANK
ANK1
Ankyrin
C15ORF41
CDA
CDA type I
CDA type II
CDA type III
CDA type IV
CDAN1
Congenital dyserythropoietic anemia (CDA)
Congenital dyserythropoietic anemia type I
Congenital dyserythropoietic anemia type II
Congenital dyserythropoietic anemia type III
Congenital dyserythropoietic anemia type IV
Dehydrated hereditary stomatocytosis
Elliptocytosis
EPB41
EPB42
G6PD
G6PD deficiency
Gamma-glutamylcysteine synthetase deficiency
GATA1
GCLC
GCLC deficiency
Glucose phosphate isomerase deficiency
Glucose-6-phosphate-dehydrogenase deficiency
GLUT1
GLUT1 deficiency syndrome
Glutathione reductase deficiency
Glutathione synthetase deficiency
Glycolytic enzyme deficiencies
GPI
GPI deficiency
GSR
GSR deficiency
GSS
GSS deficiency
GYPC
HE type 1
HE type 2
HE type 3
HE type 4
Heme oxygenase 1 deficiency
Hereditary anemia
Hereditary elliptocytosis (HE)
Hereditary hemolytic anemia
Hereditary pyropoikilocytosis (HPP)
Hereditary spherocytosis (HS)
Hereditary xerocytosis
Hexokinase deficiency
HK
HK deficiency
HK1
HMOX 1 deficiency
HMOX1
HS type 1
HS type 2
HS type 3
HS type 4
HS type 5
KIF23
KLF1
NT5C3A
Ovalocytosis
P5NT
PFK
PFKM
PGK
PGK1
Phosphofructose kinase deficiency
Phosphoglycerate kinase 1 deficiency
Phosphoglycerate kinase deficiency
PIEZO1
PK
PK deficiency
PKLR
Protein 4.1
Protein 4.2
Pyrimidine 5' nucleotidase deficiency
Pyruvate kinase deficiency
RBC enzymopathies
RBC membrane disorders
RHAG
SEC23B
SLC2A1
SLC4A1
Southeast Asian ovalocytosis
Spectrin
SPTA
SPTA1
SPTB
STOM
Stomatocytosis
TPI
TPI deficiency
TPI1
Triosphosphate isomerase deficiency
Xerocytosis
Band3 subtype, Hereditary spherocytosis
Hereditary stomatocytosis (HSt)