Spherocytosis, Type 1; Sph1

Description

Hereditary spherocytosis refers to a group of heterogeneous disorders that are characterized by the presence of spherical-shaped erythrocytes (spherocytes) on the peripheral blood smear. The disorders are characterized clinically by anemia, jaundice, and splenomegaly, with variable severity. Common complications include cholelithiasis, hemolytic episodes, and aplastic crises (review by Perrotta et al., 2008).Elgsaeter et al. (1986) gave an extensive review of the molecular basis of erythrocyte shape with a discussion of the role of spectrin and other proteins such as ankyrin, actin (OMIM ), band 4.1 (OMIM ), and band 3 (OMIM ), all of which is relevant to the understanding of spherocytosis and elliptocytosis (see {611904}).See Delaunay (2007) for a discussion of the molecular basis of hereditary red cell membrane disorders. Genetic Heterogeneity of Hereditary SpherocytosisAlso see SPH2 (OMIM ), caused by mutation in the SPTB gene (OMIM ) on chromosome 14q23; SPH3 (OMIM ), caused by mutation in the SPTA1 gene (OMIM ) on chromosome 1q21; SPH4 (OMIM ), caused by mutation in the SLC4A1 gene (OMIM ) on chromosome 17q21; and SPH5 (OMIM ), caused by mutation in the EPB42 gene (OMIM ) on chromosome 15q15.

Clinical Features

Top most frequent phenotypes and symptoms related to Spherocytosis, Type 1; Sph1

  • Pica
  • Myopathy
  • Anemia
  • Splenomegaly
  • Cardiomyopathy
  • Erythema
  • Jaundice
  • Hypertrophic cardiomyopathy
  • Hemolytic anemia
  • Hyperbilirubinemia
And another 7 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

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Spherocytosis, Type 1; Sph1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Red Blood Cell Membrane Disorders panel by next-generation sequencing (NGS).

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

SLC2A1, COL4A1, PIEZO1, ABCG5, ABCG8, SLC4A1, GYPC, ATP11C, KCNN4, EPB41, SPTB, SPTA1, ANK1, XK, EPB42, RHAG
Specificity
32 %
Genes
100 %
Hemolytic Anemia Panel by next-generation sequencing (NGS).

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

ALDOA, ALAS2, GPX1, GPI, AK1, NT5C3A, HK1, PFKM, SLC2A1, G6PD, COL4A1, PIEZO1, KIF23, GATA1, KLF1, PKLR, CDAN1, SEC23B, PGK1, ABCG5 , (...)

View the complete list with 18 more genes
Specificity
14 %
Genes
100 %
EPB42 Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

EPB42
Specificity
100 %
Genes
20 %
EPB42 Deletion/duplication analysis.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

EPB42
Specificity
100 %
Genes
20 %
Hemolytic Anemia Deletion/Duplication Panel.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

ALDOA, GPX1, GPI, AK1, NT5C3A, HK1, PFKM, SLC2A1, G6PD, PIEZO1, KIF23, GATA1, KLF1, PKLR, CDAN1, SEC23B, PGK1, ABCG5, ABCG8, SLC4A1 , (...)

View the complete list with 14 more genes
Specificity
15 %
Genes
100 %
Red Blood Cell Membrane Disorders Deletion/Duplication Panel.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

SLC2A1, PIEZO1, ABCG5, ABCG8, SLC4A1, GYPC, EPB41, SPTB, SPTA1, ANK1, XK, EPB42, RHAG
Specificity
39 %
Genes
100 %
Hereditary Hemolytic Anemia Sequencing, 28 Genes.

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

ALDOA, GPI, AK1, NT5C3A, CYB5R3, HK1, PFKM, ADA, G6PD, UGT1A1, PIEZO1, PKLR, PGK1, SLC4A1, EPB41, SPTB, SPTA1, ANK1, EPB42, GCLC , (...)

View the complete list with 8 more genes
Specificity
18 %
Genes
100 %
EPB42. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

EPB42
Specificity
100 %
Genes
20 %
EPB42. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

EPB42
Specificity
100 %
Genes
20 %
Hereditary spherocytosis type 5 (sequence analysis of EPB42).

By CGC Genetics in Portugal.

EPB42
Specificity
100 %
Genes
20 %
Hereditary spherocytosis (NGS panel for 5 genes).

By CGC Genetics in Portugal.

SLC4A1, SPTB, SPTA1, ANK1, EPB42
Specificity
100 %
Genes
100 %
Hereditary spherocytosis (NGS panel for 5 genes).

By CGC Genetics in Portugal.

SLC4A1, SPTB, SPTA1, ANK1, EPB42
Specificity
100 %
Genes
100 %
Spherocytosis/Elliptocytosis Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

SLC4A1, EPB41, SPTB, SPTA1, ANK1, EPB42
Specificity
84 %
Genes
100 %
Hereditary Spherocytosis via the EPB42 Gene.

By PreventionGenetics PreventionGenetics in United States.

EPB42
Specificity
100 %
Genes
20 %
Erythrocyte membrane disorder panel.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

SLC4A1, EPB41, SPTB, SPTA1, ANK1, EPB42, RHAG
Specificity
72 %
Genes
100 %
Spherocytosis type 5.

By Centogene AG - the Rare Disease Company in Germany.

EPB42
Specificity
100 %
Genes
20 %
Spherocytosis panel.

By Centogene AG - the Rare Disease Company in Germany.

SLC4A1, SPTB, SPTA1, ANK1, EPB42
Specificity
100 %
Genes
100 %
CentoICU platinum plus.

By Centogene AG - the Rare Disease Company in Germany.

BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
100 %
CentoICU platinum.

By Centogene AG - the Rare Disease Company in Germany.

BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
100 %
Erythrocytes, Anemia Panel.

By CeGaT GmbH in Germany.

HFE, HBB, AMN, COX4I2, RPL35A, CUBN, GIF, RPS19, HBA1, G6PD, HBA2, KIF23, KLF1, RPS26, RPS10, RPL11, RPL5, RPS17, RPS24, CDAN1 , (...)

View the complete list with 13 more genes
Specificity
13 %
Genes
80 %
NGS Panel for Hereditary hemolytic anemia including membranopathies (spherocytosis, elliptocytosis, xerocytosis, stomatocytosis, pyropoikylocytosis) and enzymopathies.

By BLOODGENETICS BLOODGENETICS in Spain.

ALDOA, ABCB6, GPX1, GPI, AK1, NT5C3A, CYB5R3, HK1, PFKM, ADA, SLC2A1, G6PD, UGT1A1, PIEZO1, PKLR, PGK1, ABCG5, ABCG8, SLC4A1, GYPC , (...)

View the complete list with 13 more genes
Specificity
16 %
Genes
100 %
SPHEROCYTOSIS.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

SLC4A1, SPTB, SPTA1, ANK1, EPB42
Specificity
100 %
Genes
100 %
Hereditary Hemolytic Anemia Comprehensive Sequencing, Varies.

By Mayo Clinic Genetic Testing Laboratories Mayo Clinic in United States.

ALDOA, HBB, GPI, AK1, NT5C3A, HK1, PFKM, FANCC, RPS19, SLC2A1, G6PD, UGT1A1, PIEZO1, KIF23, GATA1, KLF1, PKLR, CDAN1, SEC23B, PGK1 , (...)

View the complete list with 20 more genes
Specificity
13 %
Genes
100 %
Hereditary Spherocytosis NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

SLC4A1, SPTB, SPTA1, ANK1, EPB42
Specificity
100 %
Genes
100 %
EPB42.

By Fulgent Genetics Fulgent Genetics in United States.

EPB42
Specificity
100 %
Genes
20 %
Red Blood Cell Membrane Disorder Panel.

By Blueprint Genetics in Finland.

SLC4A1, EPB41, SPTB, SPTA1, ANK1, EPB42, RHAG
Specificity
72 %
Genes
100 %
Comprehensive Hematology Panel.

By Blueprint Genetics in Finland.

BRCA1, BRCA2, F2, F5, HFE, EPCAM, MSH2, PMS2, MSH6, MLH1, RECQL4, RUNX1, TP53, YARS2, PC, HBB, TYRP1, OCA2, AMN, SLC45A2 , (...)

View the complete list with 219 more genes
Specificity
3 %
Genes
100 %
Anemia Panel.

By Blueprint Genetics in Finland.

BRCA2, HFE, YARS2, PC, HBB, AMN, MTR, CLCN7, ALAS2, GPI, RPL35A, PUS1, PDHA1, ABCB7, TCN2, NT5C3A, CUBN, CYB5R3, SLC25A38, PDHX , (...)

View the complete list with 58 more genes
Specificity
7 %
Genes
100 %
ELLIPTOCYTOSIS 4.

By Bioarray in Spain.

EPB42
Specificity
100 %
Genes
20 %
Hereditary spherocytosis type 5.

By Bioarray in Spain.

EPB42
Specificity
100 %
Genes
20 %
Hereditary Spherocytosis (AD and AR) NGS and Deletion/Duplication Panel.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

SLC4A1, SPTB, SPTA1, ANK1, EPB42
Specificity
100 %
Genes
100 %
EPB42 Gene Sequencing and Deletion/Duplication Analysis.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

EPB42
Specificity
100 %
Genes
20 %
HEREDITARY SPHEROCYTOSIS.

By Laboratorio de Genetica Clinica SL in Spain.

SLC4A1, SPTB, SPTA1, ANK1, EPB42
Specificity
100 %
Genes
100 %
HEREDITARY SPHEROCYTOSIS: NGS PANEL.

By Laboratorio de Genetica Clinica SL in Spain.

SLC4A1, SPTB, SPTA1, ANK1, EPB42
Specificity
100 %
Genes
100 %
Hereditary Spherocytosis Type 5, Sequencing EPB42 Gene.

By Reference Laboratory Genetics in Spain.

EPB42
Specificity
100 %
Genes
20 %
Hereditary Spherocytosis , Panel Massive Sequencing (NGS) 5 Genes.

By Reference Laboratory Genetics in Spain.

SLC4A1, SPTB, SPTA1, ANK1, EPB42
Specificity
100 %
Genes
100 %
SPTA1 Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

SPTA1
Specificity
100 %
Genes
20 %
SPTA1 Deletion/duplication analysis.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

SPTA1
Specificity
100 %
Genes
20 %
SPTA1. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

SPTA1
Specificity
100 %
Genes
20 %
SPTA1. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

SPTA1
Specificity
100 %
Genes
20 %
Hereditary spherocytosis type 3 (sequence analysis of SPTA1 gene).

By CGC Genetics in Portugal.

SPTA1
Specificity
100 %
Genes
20 %
Hereditary Spherocytosis/Elliptocytosis via the SPTA1 Gene.

By PreventionGenetics PreventionGenetics in United States.

SPTA1
Specificity
100 %
Genes
20 %
Spherocytosis type 3.

By Centogene AG - the Rare Disease Company in Germany.

SPTA1
Specificity
100 %
Genes
20 %
Spherocytosis, Type 3 (SPTA1).

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

SPTA1
Specificity
100 %
Genes
20 %
Elliptocytosis 2 (SPTA1).

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

SPTA1
Specificity
100 %
Genes
20 %
Hereditary Pyropoikilocytosis (HPP, SPTA1, SPTB).

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

SPTB, SPTA1
Specificity
100 %
Genes
40 %
Hereditary Elliptocytosis.

By Blood Cell Disease Reference Laboratory Yale University School of Medicine in United States.

SPTB, SPTA1
Specificity
100 %
Genes
40 %
Hereditary Pyropoikilocytosis.

By Blood Cell Disease Reference Laboratory Yale University School of Medicine in United States.

SPTB, SPTA1
Specificity
100 %
Genes
40 %
Hereditary Spherocytosis.

By Blood Cell Disease Reference Laboratory Yale University School of Medicine in United States.

SLC4A1, SPTB, SPTA1, ANK1
Specificity
100 %
Genes
80 %
SPTA1.

By Fulgent Genetics Fulgent Genetics in United States.

SPTA1
Specificity
100 %
Genes
20 %
Elliptocytosis-3.

By Bioarray in Spain.

SPTA1
Specificity
100 %
Genes
20 %
Hereditary spherocytosis type 3.

By Bioarray in Spain.

SPTA1
Specificity
100 %
Genes
20 %
SPTA1 Gene Sequencing and Deletion/Duplication Analysis.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

SPTA1
Specificity
100 %
Genes
20 %
NeoTYPE® Discovery Profile for Solid Tumors.

By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. in United States.

BRCA1, BRCA2, VHL, APC, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RUNX1, TP53, FOXL2, HNF1A, WT1, RB1, RET, SDHC, RAF1, FH , (...)

View the complete list with 295 more genes
Specificity
1 %
Genes
20 %
Hereditary Spherocytosis Type 3, Sequencing SPTA1 Gene.

By Reference Laboratory Genetics in Spain.

SPTA1
Specificity
100 %
Genes
20 %
Hereditary Elliptocytosis , Panel Massive Sequencing (NGS) 3 Genes.

By Reference Laboratory Genetics in Spain.

GYPC, EPB41, SPTA1
Specificity
34 %
Genes
20 %
SPTB Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

SPTB
Specificity
100 %
Genes
20 %
SPTB Deletion/duplication analysis.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

SPTB
Specificity
100 %
Genes
20 %
SPTB. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

SPTB
Specificity
100 %
Genes
20 %
SPTB. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

SPTB
Specificity
100 %
Genes
20 %
Hereditary spherocytosis type 2 (sequence analysis of SPTB gene).

By CGC Genetics in Portugal.

SPTB
Specificity
100 %
Genes
20 %
Hereditary Spherocytosis/Elliptocytosis via the SPTB Gene.

By PreventionGenetics PreventionGenetics in United States.

SPTB
Specificity
100 %
Genes
20 %
Anemia, neonatal hemolytic, fatal and near-fatal.

By Centogene AG - the Rare Disease Company in Germany.

SPTB
Specificity
100 %
Genes
20 %
Spherocytosis type 2.

By Centogene AG - the Rare Disease Company in Germany.

SPTB
Specificity
100 %
Genes
20 %
Spherocytosis, Type 2 (SPTB).

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

SPTB
Specificity
100 %
Genes
20 %
Elliptocytosis 3 (SPTB).

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

SPTB
Specificity
100 %
Genes
20 %
SPTB.

By Fulgent Genetics Fulgent Genetics in United States.

SPTB
Specificity
100 %
Genes
20 %
Elliptocytosis-1.

By Bioarray in Spain.

SPTB
Specificity
100 %
Genes
20 %
Hereditary spherocytosis type 2.

By Bioarray in Spain.

SPTB
Specificity
100 %
Genes
20 %
Hereditary Spherocytosis autosomal dominant only NGS and Deletion/Duplication panel.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

SLC4A1, SPTB, ANK1
Specificity
100 %
Genes
60 %
SPTB Gene Sequencing and Deletion/Duplication Analysis.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

SPTB
Specificity
100 %
Genes
20 %
Hereditary Spherocytosis Type 2, Sequencing SPTB Gene.

By Reference Laboratory Genetics in Spain.

SPTB
Specificity
100 %
Genes
20 %
Renal Tubular Acidosis, Distal, Autosomal Dominant.

By Genetics Laboratory University of Oklahoma Health Sciences Center in United States.

SLC4A1
Specificity
100 %
Genes
20 %
SLC4A1 Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

SLC4A1
Specificity
100 %
Genes
20 %
SLC4A1 Deletion/duplication analysis.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

SLC4A1
Specificity
100 %
Genes
20 %
ExomePLUS Electrolyte & Kidney Stone.

By Laboratory for Molecular Medicine Laboratory for Molecular Medicine (Partners HealthCare Personalized Medicine) in United States.

OCRL, HPRT1, CYP11B2, FAH, CYP24A1, AGXT, FAM20C, APRT, VDR, CDC73, CTNS, GRHPR, CASR, HSD11B2, AVPR2, AQP2, PHEX, SLC12A3, SCNN1A, SCNN1B , (...)

View the complete list with 29 more genes
Specificity
3 %
Genes
20 %
SLC4A1. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

SLC4A1
Specificity
100 %
Genes
20 %
SLC4A1. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

SLC4A1
Specificity
100 %
Genes
20 %
SLC4A1, Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

SLC4A1
Specificity
100 %
Genes
20 %
Hereditary spherocytosis type 4 (sequence analysis of SLC4A1 gene).

By CGC Genetics in Portugal.

SLC4A1
Specificity
100 %
Genes
20 %
Distal renal tubular acidosis (sequence analysis of SLC4A1 gene).

By CGC Genetics in Portugal.

SLC4A1
Specificity
100 %
Genes
20 %
Renal tubular acidosis, distal, AR (NGS panel for 3 genes).

By CGC Genetics in Portugal.

ATP6V1B1, SLC4A1, ATP6V0A4
Specificity
34 %
Genes
20 %
Renal tubular acidosis, distal, autosomal dominant.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

SLC4A1
Specificity
100 %
Genes
20 %
Spherocytosis, type 4.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

SLC4A1
Specificity
100 %
Genes
20 %
Southeast Asian Ovalocytosis.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

SLC4A1
Specificity
100 %
Genes
20 %
Blood group, Froese.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

SLC4A1
Specificity
100 %
Genes
20 %
Hereditary Spherocytosis via the SLC4A1 Gene.

By PreventionGenetics PreventionGenetics in United States.

SLC4A1
Specificity
100 %
Genes
20 %
Distal Renal Tubular Acidosis Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

CA2, ATP6V1B1, SLC4A1, ATP6V0A4
Specificity
25 %
Genes
20 %
Nephrolithiasis and Nephrocalcinosis Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

SLC34A1, OCRL, HPRT1, CYP24A1, SLC9A3R1, XDH, AGXT, CA2, SLC3A1, APRT, VDR, GRHPR, CASR, HNF4A, KCNJ1, SLC12A1, ATP6V1B1, SLC4A1, ATP6V0A4, HOGA1 , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
20 %
Nephrolithiasis and related disorders NGS panel.

By Connective Tissue Gene Tests in United States.

SLC34A1, OCRL, HPRT1, CYP24A1, SLC9A3R1, XDH, AGXT, CA2, SLC3A1, APRT, GRHPR, CASR, HNF4A, KCNJ1, SLC12A1, ATP6V1B1, GNA11, SLC4A1, ATP6V0A4, HOGA1 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
20 %
Nephrolithiasis and related disorders Comprehensive panel.

By Connective Tissue Gene Tests in United States.

SLC34A1, OCRL, HPRT1, CYP24A1, SLC9A3R1, XDH, AGXT, CA2, SLC3A1, APRT, GRHPR, CASR, HNF4A, KCNJ1, SLC12A1, ATP6V1B1, GNA11, SLC4A1, ATP6V0A4, HOGA1 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
20 %
Nephrolithiasis and related disorders Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

SLC34A1, OCRL, HPRT1, CYP24A1, SLC9A3R1, XDH, AGXT, CA2, SLC3A1, APRT, GRHPR, CASR, HNF4A, KCNJ1, SLC12A1, ATP6V1B1, GNA11, SLC4A1, ATP6V0A4, HOGA1 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
20 %
Hereditary kidney disorders - different panels.

By Institute of Human Genetics Cologne University in Germany.

VHL, ACAT1, ARG1, ATP7B, AUH, BCS1L, INVS, HNF1A, MMACHC, EYA1, LRP5, SLC34A1, WT1, PAX6, SDHAF2, HNF1B, RET, INPP5E, CPS1, GLB1 , (...)

View the complete list with 391 more genes
Specificity
1 %
Genes
20 %
Bartter Syndrome panel.

By Centogene AG - the Rare Disease Company in Germany.

CA2, WNK1, CASR, HSD11B2, SLC12A3, SCNN1A, SCNN1G, SCNN1B, BSND, CLCNKB, KCNJ1, SLC12A1, KCNJ10, ATP6V1B1, CLCNKA, SLC4A4, NR3C2, KLHL3, SLC4A1, WNK4 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
20 %
Ovalocytosis.

By Centogene AG - the Rare Disease Company in Germany.

SLC4A1
Specificity
100 %
Genes
20 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company in Germany.

F2, F5, FMR1, HTT, HFE, MTHFR, TTR, UBE3A, VHL, PTEN, AARS2, ABHD12, ACACA, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1 , (...)

View the complete list with 1185 more genes
Specificity
1 %
Genes
20 %
Renal tubular acidosis Panel.

By CeGaT GmbH in Germany.

CA2, ATP6V1B1, SLC4A4, SLC4A1, ATP6V0A4
Specificity
20 %
Genes
20 %
Single gene testing SLC4A1.

By CeGaT GmbH in Germany.

SLC4A1
Specificity
100 %
Genes
20 %
Renal Tubular Acidosis, Distal (SLC4A1).

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

SLC4A1
Specificity
100 %
Genes
20 %
Spherocytosis, Type 4 (SLC4A1).

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

SLC4A1
Specificity
100 %
Genes
20 %
Southeast Asian Ovalocytosis (SAO, SLC4A1).

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

SLC4A1
Specificity
100 %
Genes
20 %
Hereditary Stomatocytosis.

By Blood Cell Disease Reference Laboratory Yale University School of Medicine in United States.

SLC4A1
Specificity
100 %
Genes
20 %
Southeast Asian Ovalocytosis.

By Blood Cell Disease Reference Laboratory Yale University School of Medicine in United States.

SLC4A1
Specificity
100 %
Genes
20 %
Renal tubular acidosis, distal, AR.

By Praxis fuer Humangenetik Wien in Austria.

SLC4A1
Specificity
100 %
Genes
20 %
Renal tubular acidosis, distal, AD.

By Praxis fuer Humangenetik Wien in Austria.

SLC4A1
Specificity
100 %
Genes
20 %
Spherocytosis, 4.

By Praxis fuer Humangenetik Wien in Austria.

SLC4A1
Specificity
100 %
Genes
20 %
Renal tubular acidosis, distal, AR.

By MedGene in Slovakia.

SLC4A1
Specificity
100 %
Genes
20 %
Renal tubular acidosis, distal, AD.

By MedGene in Slovakia.

SLC4A1
Specificity
100 %
Genes
20 %
Spherocytosis, 4.

By MedGene in Slovakia.

SLC4A1
Specificity
100 %
Genes
20 %
Renal tubular Acidosis distal: SLC4A1 gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

SLC4A1
Specificity
100 %
Genes
20 %
BARTTER SYNDROME.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

CA2, WNK1, CASR, HSD11B2, SLC12A3, SCNN1A, SCNN1G, SCNN1B, BSND, CLCNKB, KCNJ1, SLC12A1, KCNJ10, ATP6V1B1, CLCNKA, SLC4A4, NR3C2, KLHL3, SLC4A1, WNK4 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
20 %
SLC4A1.

By Fulgent Genetics Fulgent Genetics in United States.

SLC4A1
Specificity
100 %
Genes
20 %
KidneySeq - 264 Genes.

By Iowa Institute of Human Genetics University of Iowa in United States.

TTR, VHL, ATP7B, INVS, EYA1, SLC34A1, WT1, HNF1B, RET, INPP5E, CC2D2A, OCRL, JAG1, HPRT1, TMEM67, ARL6, NPHP3, NPHP1, MKKS, CEP290 , (...)

View the complete list with 232 more genes
Specificity
1 %
Genes
20 %
Renal Tubular Acidosis Panel.

By Blueprint Genetics in Finland.

CA2, ATP6V1B1, SLC4A4, SLC4A1, ATP6V0A4
Specificity
20 %
Genes
20 %
Nephrolithiasis Panel.

By Blueprint Genetics in Finland.

ALPL, SLC34A1, OCRL, HPRT1, CYP24A1, SLC9A3R1, XDH, AGXT, CA2, MOCS1, SLC3A1, APRT, VDR, GRHPR, CASR, HNF4A, KCNJ1, SLC12A1, ATP6V1B1, GNA11 , (...)

View the complete list with 15 more genes
Specificity
3 %
Genes
20 %
Hereditary spherocytosis type 4.

By Bioarray in Spain.

SLC4A1
Specificity
100 %
Genes
20 %
Autosomal dominant distal renal tubular acidosis.

By Bioarray in Spain.

SLC4A1
Specificity
100 %
Genes
20 %
Elliptocytosis-2.

By Bioarray in Spain.

SLC4A1
Specificity
100 %
Genes
20 %
SLC4A1 Gene Sequencing and Deletion/Duplication Analysis.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

SLC4A1
Specificity
100 %
Genes
20 %
Hereditary Spherocytosis type 4 (SLC4A1) Targeted Testing.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

SLC4A1
Specificity
100 %
Genes
20 %
Autosomal Recessive Distal Renal Tubular Acidosis, Sequencing SLC4A1 Gene.

By Reference Laboratory Genetics in Spain.

SLC4A1
Specificity
100 %
Genes
20 %
Hereditary Spherocytosis Type 4 , Sequencing SLC4A1 Gene.

By Reference Laboratory Genetics in Spain.

SLC4A1
Specificity
100 %
Genes
20 %
Autosomal Dominant Distal Renal Tubular Acidosis, Sequencing SLC4A1 Gene.

By Reference Laboratory Genetics in Spain.

SLC4A1
Specificity
100 %
Genes
20 %
Bartter Syndrome and related disorders , Panel Massive Sequencing (NGS) 22 Genes.

By Reference Laboratory Genetics in Spain.

CA2, WNK1, CASR, HSD11B2, SLC12A3, SCNN1A, SCNN1G, SCNN1B, BSND, CLCNKB, KCNJ1, SLC12A1, KCNJ10, ATP6V1B1, CLCNKA, NR3C2, KLHL3, SLC4A1, WNK4, CLDN16 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
20 %
Abnormal Mineralization , Panel Massive Sequencing (NGS) 28 Genes.

By Reference Laboratory Genetics in Spain.

ALPL, ANKH, SLC34A1, OCRL, FAH, SLC9A3R1, CYP27B1, FAM20C, VDR, CTNS, CASR, HNF4A, PHEX, FGF23, TJP2, PTH1R, ABCC6, SLC4A1, ATP6V0A4, BAAT , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
20 %
Renal Tubular Acidosis, Panel Massive Sequencing (NGS) ATP6V0A4, ATP6V1B1, CA2, SLC4A1, SLC4A4 Genes.

By Reference Laboratory Genetics in Spain.

CA2, ATP6V1B1, SLC4A4, SLC4A1, ATP6V0A4
Specificity
20 %
Genes
20 %
ANK1 Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

ANK1
Specificity
100 %
Genes
20 %
ANK1 Deletion/duplication analysis.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

ANK1
Specificity
100 %
Genes
20 %
ANK1. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

ANK1
Specificity
100 %
Genes
20 %
Hereditary spherocytosis (sequence analysis of ANK1 gene).

By CGC Genetics in Portugal.

ANK1
Specificity
100 %
Genes
20 %
Hereditary Spherocytosis Type 1 via the ANK1 Gene.

By PreventionGenetics PreventionGenetics in United States.

ANK1
Specificity
100 %
Genes
20 %
Spherocytosis type 1.

By Centogene AG - the Rare Disease Company in Germany.

ANK1
Specificity
100 %
Genes
20 %
Spherocytosis, Type 1 (ANK1).

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

ANK1
Specificity
100 %
Genes
20 %
Spherocytosis, Hereditary: ANK1 gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

ANK1
Specificity
100 %
Genes
20 %
ANK1.

By Fulgent Genetics Fulgent Genetics in United States.

ANK1
Specificity
100 %
Genes
20 %
Hereditary spherocytosis type 1.

By Bioarray in Spain.

ANK1
Specificity
100 %
Genes
20 %
ANK1 Gene Sequencing and Deletion/Duplication Analysis.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

ANK1
Specificity
100 %
Genes
20 %
Hereditary Spherocytosis Type 1, Sequencing ANK1 Gene.

By Reference Laboratory Genetics in Spain.

ANK1
Specificity
100 %
Genes
20 %

Alternate names

Spherocytosis, Type 1; Sph1 Is also known as spherocytosis, hereditary, 1;hs1, sph;hs;minkowski-chauffard disease.


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