©istock.com/Andrea Obzerova
Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessErythrocyte membrane defects, differential diagnosis

Request form illness

Summary

Short information

Comprehensive differential diagnostic panel for Erythrocyte membrane defects comprising 6 guideline-curated core/core candidate genes and altogether 10 curated genes according to the clinical signs

ID
EP5674
Number of genes
10 Accredited laboratory test
Examined sequence length
38,5 kb (Core-/Core-canditate-Genes)
40,0 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
ANK15643NM_000037.4AD, AR
EPB412595NM_001166005.2AD, AR
EPB422166NM_000119.3AR
PIEZO17566NM_001142864.4AD
RHAG1230NM_000324.3AD
SEC23B2304NM_006363.6AR
SLC4A12736NM_000342.4AD
SPTA17260NM_003126.4AD, AR
SPTB6987NM_001024858.4AD
SLC2A11479
  • No OMIM-Gs linked
NM_006516.4AD

Informations about the disease

Clinical Comment

Red cell membrane defects are the most frequent cause of congenital hamolytic anamias in Central Europe such as hereditary spharocytosis, elliptocytosis, more rarely pyropoicilocytosis, ovalocytosis, stomatocytosis

 

Synonyms
  • Allelic: Dystonia 9 (SLC2A1)
  • Allelic: Epilepsy, idiopathic generalized, susceptibility to, 12 (SLC2A1)
  • Allelic: Lymphatic malformation 6 (PIEZO1)
  • Allelic: Stomatin-deficient cryohydrocytosis with neurologic defects (SLC2A1)
  • Anemia, hemolytic, Rh-null, regulator type (RHAG)
  • Anemia, neonatal hemolytic, (near-)fatal (SPTB)
  • Cowden syndrome 7 (SEC23B)
  • Cryohydrocytosis (SLC4A1)
  • Dehydrated hereditary stomatocytosis with/-out pseudohyperkalemia, perinatal edema (PIEZO1)
  • Dyserythropoietic anemia, congenital, type II (SEC23B)
  • Elliptocytosis-1 (EPB41)
  • Elliptocytosis-2 (SPTA1)
  • Elliptocytosis-3 (SPTB)
  • GLUT1 deficiency syndrome 1, infantile onset, severe (SLC2A1)
  • GLUT1 deficiency syndrome 2, childhood onset (SLC2A1)
  • Gilbert syndrome (UGT1A1)
  • Hyperbilirubinemia, familial transient neonatal (UGT1A1)
  • Ovalocytosis, 5A type (SLV4A1)
  • Overhydrated hereditary stomatocytosis (RHAG)
  • Pyropoikilocytosis (SPTB)
  • Renal tubular acidosis, distal, AD, AR (SLC4A1)
  • Spherocytosis type 1 (ANK1)
  • Spherocytosis type 2 (SPTB)
  • Spherocytosis type 3 (SPTA1)
  • Spherocytosis, type 4 (SLC4A1)
  • Spherocytosis, type 5 (EPB42)
  • Stomatocytosis (PIEZO1)
  • Xerocytosis (PIEZO1)
Heredity, heredity patterns etc.
  • AD
  • AR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined