Malaria, Susceptibility To

Description

Malaria, a major cause of child mortality worldwide, is caused by mosquito-borne hematoprotozoan parasites of the genus Plasmodium. Of the 4 species that infect humans, P. falciparum causes the most severe forms of malaria and is the major cause of death and disease. Although less fatal, P. malariae, P. ovale, and, in particular, P. vivax infections are major causes of morbidity. The parasite cycle involves a first stage in liver cells and a subsequent stage at erythrocytes, when malaria symptoms occur. A wide spectrum of phenotypes are observed, from asymptomatic infection to mild disease, including fever and mild anemia, to severe disease, including cerebral malaria, profound anemia, and respiratory distress. Genetic factors influence the response to infection, as well as disease progression and severity. Malaria is the strongest known selective pressure in the recent history of the human genome, and it is the evolutionary driving force behind sickle-cell disease (OMIM ), thalassemia (see {141800}), glucose-6-phosphatase deficiency (OMIM ), and other erythrocyte defects that together constitute the most common mendelian diseases of humans (Kwiatkowski, 2005; Campino et al., 2006).

Clinical Features

Top most frequent phenotypes and symptoms related to Malaria, Susceptibility To

  • Cognitive impairment
  • Anemia
  • Fever
  • Respiratory distress
  • Thrombocytopenia
  • Headache
  • Myalgia
  • Retinopathy
  • Nausea and vomiting
  • Hyperbilirubinemia
And another 6 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

— Based on the latest data available Malaria, Susceptibility To have a estimated prevalence of 3 per 100k worldwide.


Mendelian

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Malaria, Susceptibility To Recommended genes panels

Panel Name, Specifity and genes Tested/covered
GeneAware Complete Panel Version 2 (Female).

By Baylor Miraca Genetics Laboratories in United States.

FMR1, UBE3A, ACADM, AGL, ACADVL, ALDOB, PC, USH1C, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, SLC37A4, HSD17B4, CPT2 , (...)

View the complete list with 139 more genes
Specificity
1 %
Genes
9 %
Non-immune Hydrops Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

COL2A1, GNPTAB, GLB1, HADHA, RAF1, SMPD1, RPL35A, HADHB, ALG9, ALG1, CTSA, GUSB, GALNS, GBE1, PMM2, FGFR3, GBA, BRAF, DHCR7, GLA , (...)

View the complete list with 67 more genes
Specificity
2 %
Genes
9 %
Red Blood Cell Enzymopathies 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, GPX1, GPI, AK1, NT5C3A, HK1, PFKM, G6PD, PKLR, PGK1, GCLC, GSR, TPI1, GSS
Specificity
8 %
Genes
9 %
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
6 %
Genes
17 %
G6PD Sequencing.

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

G6PD
Specificity
100 %
Genes
9 %
G6PD Deletion/duplication analysis.

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

G6PD
Specificity
100 %
Genes
9 %
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
6 %
Genes
17 %
Red Blood Cell Enzymopathies 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, G6PD, PKLR, PGK1, GCLC, GSR, TPI1, GSS
Specificity
8 %
Genes
9 %
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
4 %
Genes
9 %
Glucose-6-Phosphate Dehydrogenase Deficiency (G6PD) Sequencing.

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

G6PD
Specificity
100 %
Genes
9 %
Glucose-6-Phosphate Dehydrogenase (G6PD) 2 Mutations.

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

G6PD
Specificity
100 %
Genes
9 %
G6PD. Complete sequencing.

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

G6PD
Specificity
100 %
Genes
9 %
Glucose-6-Phosphate Dehydrogenase Deficiency (sequence analysis of G6PD gene).

By CGC Genetics in Portugal.

G6PD
Specificity
100 %
Genes
9 %
RBC Enzymopathies (NGS panel of 14 genes).

By CGC Genetics in Portugal.

ALDOA, GPX1, GPI, AK1, NT5C3A, HK1, PFKM, G6PD, PKLR, PGK1, GCLC, GSR, TPI1, GSS
Specificity
8 %
Genes
9 %
Glucose-6-Phosphate Dehydrogenase Deficiency via G6PD Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

G6PD
Specificity
100 %
Genes
9 %
Glucose-6-Phosphate Dehydrogenase Deficiency.

By Bioscientia GmbH Center for Human Genetics in Germany.

G6PD
Specificity
100 %
Genes
9 %
G6PD deficiency.

By Synlab MVZ Humane Genetik München Synlab MVZ Humane Genetik München in Germany.

G6PD
Specificity
100 %
Genes
9 %
Glucose-6-phosphate dehydrogenase deficiency (G6PD).

By VU University Medical Center Metabolic Unit, PX 1X 009 in Netherlands.

G6PD
Specificity
100 %
Genes
9 %
G6PD Deficiency.

By GeneTech ATS GeneTech Private Limited in India.

G6PD
Specificity
100 %
Genes
9 %
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
9 %
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
9 %
Glucose-6-phosphate dehydrogenase deficiency with nonspherocytic hemolytic anemia.

By Centogene AG - the Rare Disease Company in Germany.

G6PD
Specificity
100 %
Genes
9 %
Pharmacogenetic panel.

By bio.logis Center for Human Genetics Diagnosticum in Germany.

MTHFR, COMT, SOD2, ALDH2, G6PD, UGT1A1, DPYD, ABCB1, CYP2C19, CYP2D6, TPMT, VKORC1, PON1, SLCO1B1, CYP2C9, CYP1A2, BCHE, CYP3A4, ADRB2, NAT2 , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
9 %
Glucose-6-phosphate dehydrogenase deficiency.

By bio.logis Center for Human Genetics Diagnosticum in Germany.

G6PD
Specificity
100 %
Genes
9 %
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
4 %
Genes
9 %
G6PD deficiency.

By Molecular Diagnostics Division Centre for Cellular and Molecular Biology in India.

G6PD
Specificity
100 %
Genes
9 %
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
7 %
Genes
17 %
qCarrier Plus.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

F2, F5, FMR1, MTHFR, MCCC1, MCCC2, ABCB11, ACADM, ACADS, AGL, ACADVL, ACAT1, AIPL1, ALDOB, USH1G, PC, USH1C, ARG1, HLCS, BTD , (...)

View the complete list with 280 more genes
Specificity
1 %
Genes
9 %
Invitae Metabolic Disorders Newborn Screening Confirmation Panel.

By Invitae in United States.

MCCC1, MCCC2, ACADM, ACADS, ACADVL, ACAT1, PC, ARG1, HLCS, BTD, AUH, BCKDHA, BCKDHB, GAA, MMACHC, MTR, MTRR, CPS1, CPT2, PRODH , (...)

View the complete list with 70 more genes
Specificity
2 %
Genes
9 %
Invitae Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency Test.

By Invitae in United States.

G6PD
Specificity
100 %
Genes
9 %
Invitae Phagocyte Defects Panel.

By Invitae in United States.

SLC37A4, HAX1, TAZ, SLC35C1, CYBA, PMM2, G6PD, CYBB, WAS, VPS13B, CTSC, CSF2RA, NCF2, NCF4, FERMT3, CSF3R, ELANE, G6PC3, VPS45, GFI1 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
9 %
Glucose 6-phosphate dehydrogenase, Deficiency: G6PD gene sequence analysis.

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

G6PD
Specificity
100 %
Genes
9 %
Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency: G6PD Gene Sequencing.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

G6PD
Specificity
100 %
Genes
9 %
Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency: G6PD Gene Deletion/Duplication.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

G6PD
Specificity
100 %
Genes
9 %
Pan-Ethnic Carrier Screen: Gene Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

FMR1, HFE, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOB, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, CHM, TYR, SLC37A4 , (...)

View the complete list with 127 more genes
Specificity
1 %
Genes
9 %
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
5 %
Genes
17 %
Nuclear-Mito NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

HTT, UBE3A, MUTYH, TP53, MCCC1, MCCC2, AARS2, ACACA, ACAD9, ACADL, ACADM, ACADS, ACADVL, ACAT1, YARS2, FBP1, PC, GYS2, UQCRQ, UQCRB , (...)

View the complete list with 484 more genes
Specificity
1 %
Genes
9 %
G6PD.

By Fulgent Genetics Fulgent Genetics in United States.

G6PD
Specificity
100 %
Genes
9 %
X-chromosome High Resolution microarray analysis.

By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center in United States.

ATP7A, OPN1MW, CHM, GPR143, HSD17B10, OCRL, CACNA1F, NDP, HPRT1, NHS, ALAS2, RPGR, MECP2, RS1, PHKA2, RP2, OTC, HCCS, PDHA1, GK , (...)

View the complete list with 140 more genes
Specificity
1 %
Genes
9 %
Primary Immunodeficiency Panel.

By Blueprint Genetics in Finland.

PMS2, RECQL4, STAT1, SLC37A4, CASP8, CLCN7, HAX1, AP3B1, UNG, TAP1, TCN2, AK2, SLC35C1, CYBA, STAT3, ADA, MOGS, IL2RG, PNP, AIRE , (...)

View the complete list with 255 more genes
Specificity
1 %
Genes
9 %
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
1 %
Genes
9 %
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
2 %
Genes
9 %
Chronic Granulomatous Disease Panel.

By Blueprint Genetics in Finland.

CYBA, G6PD, CYBB, NCF2, NCF4, NOD2, NCF1
Specificity
15 %
Genes
9 %
Glucose-6-phosphate-dehydrogenase deficiency.

By Bioarray in Spain.

G6PD
Specificity
100 %
Genes
9 %
CarrierMap.

By Recombine in United States.

FMR1, MTHFR, MCCC1, MCCC2, ABCB11, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOB, PC, USH1C, ALPL, ARG1, HLCS, ATP7A, BTD, ATP7B, BCKDHA , (...)

View the complete list with 281 more genes
Specificity
1 %
Genes
9 %
Baby Genes Targeted Panel.

By Baby Genes Inc. Baby Genes Inc. in United States.

MTHFR, MCCC1, MCCC2, ACADM, ACADS, ACADVL, ACAT1, ARG1, HLCS, BTD, BCKDHA, BCKDHB, GAA, HBB, MMACHC, MTR, MTRR, CPT2, DLD, SLC25A13 , (...)

View the complete list with 70 more genes
Specificity
2 %
Genes
9 %
Next Generation Sequencing for Jaundice Associated Genes Variation Test.

By National Taiwan University Hospital A1 Center National Taiwan University Hospital in Taiwan.

HFE, ABCB11, ABCB4, ATP7B, ATP8B1, BCS1L, TWNK, INVS, HBB, HNF1B, AMACR, JAG1, POLG, RRM2B, SLC25A13, DGUOK, MPV17, SUCLG1, ASS1, CYP27A1 , (...)

View the complete list with 53 more genes
Specificity
2 %
Genes
9 %
GLUCOSE-6-PHOSPHATE-DEHYDROGENASE DEFICIENCY.

By Laboratorio de Genetica Clinica SL in Spain.

G6PD
Specificity
100 %
Genes
9 %
Glucose 6-Phosphate Dehydrogenase Deficiency , Sequencing G6PD Gene.

By Reference Laboratory Genetics in Spain.

G6PD
Specificity
100 %
Genes
9 %
PharmacoScan.

By RPRD Diagnostics, LLC RPRD Diagnostics, LLC in United States.

G6PD, UGT1A1, DPYD, CYP2C19, CYP2D6, TPMT, VKORC1, SLCO1B1, CYP2C9, CYP3A4, CYP3A5
Specificity
10 %
Genes
9 %
Glimepiride response.

By Xcode Life Xcode Life in India.

G6PD
Specificity
100 %
Genes
9 %
Glyburide response.

By Xcode Life Xcode Life in India.

G6PD
Specificity
100 %
Genes
9 %
Glipizide response.

By Xcode Life Xcode Life in India.

G6PD
Specificity
100 %
Genes
9 %
Chlorpropamide response.

By Xcode Life Xcode Life in India.

G6PD
Specificity
100 %
Genes
9 %
Tolbutamide response.

By Xcode Life Xcode Life in India.

G6PD
Specificity
100 %
Genes
9 %
Chlorpropamide response.

By Xcode Life Xcode Life in India.

G6PD
Specificity
100 %
Genes
9 %
Glyburide response.

By Xcode Life Xcode Life in India.

G6PD
Specificity
100 %
Genes
9 %
Glimepiride response.

By Xcode Life Xcode Life in India.

G6PD
Specificity
100 %
Genes
9 %
Glipizide response.

By Xcode Life Xcode Life in India.

G6PD
Specificity
100 %
Genes
9 %
Tolbutamide response.

By Xcode Life Xcode Life in India.

G6PD
Specificity
100 %
Genes
9 %
Tempus xT assay.

By Tempus Labs, Inc. in United States.

BRCA1, BRCA2, MTHFR, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ATP7B, FOXL2, HNF1A, WT1, RB1 , (...)

View the complete list with 571 more genes
Specificity
1 %
Genes
25 %
Tempus xO assay.

By Tempus Labs, Inc. in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ABCB11, ABCB4, FKBP10, FOXL2, HNF1A, PPARG , (...)

View the complete list with 1693 more genes
Specificity
1 %
Genes
9 %
CEN4GEN rapid supplemental newborn genetic screen: Full gene sequencing panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

MTHFR, MCCC1, MCCC2, ACADM, ACADS, ACADVL, ACAT1, ARG1, HLCS, BTD, AUH, BCKDHA, BCKDHB, GAA, HBB, MMACHC, MTR, MTRR, CPT2, HSD17B10 , (...)

View the complete list with 79 more genes
Specificity
2 %
Genes
9 %
CEN4GEN rapid pan-ethnic carrier screen: Full gene sequencing panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

MTHFR, MCCC1, MCCC2, ACADM, ACADS, ACADVL, ACAT1, ARG1, HLCS, BTD, AUH, BCKDHA, BCKDHB, GAA, HBB, MMACHC, MTR, MTRR, CPT2, HSD17B10 , (...)

View the complete list with 84 more genes
Specificity
1 %
Genes
9 %
Favism (Glucose-6-phosphate dehydrogenase deficiency): Full gene sequencing (Rapid testing).

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

G6PD
Specificity
100 %
Genes
9 %
Hemolytic anemia due to G6PD deficiency: Full gene sequencing (Rapid testing).

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

G6PD
Specificity
100 %
Genes
9 %
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
75 %
TNF.

By Fulgent Genetics Fulgent Genetics in United States.

TNF
Specificity
100 %
Genes
9 %
Immune Report Card.

By OmniSeq, Inc. in United States.

STAT1, TGFB1, FOXP3, CCL2, CSF1R, CD40, CD40LG, CD27, CTLA4, ICOS, MS4A1, DDX58, IL10, IFNG, IL1B, CD8A, TNFSF4, TNF, CD4, CD244 , (...)

View the complete list with 27 more genes
Specificity
3 %
Genes
9 %
Asthma Susceptibility to, Sequencing TNF Gene.

By Reference Laboratory Genetics in Spain.

TNF
Specificity
100 %
Genes
9 %
Asthma Susceptibility to, Panel Massive Sequencing (NGS) 10 Genes.

By Reference Laboratory Genetics in Spain.

PLA2G7, ADRB2, HNMT, TNF, CCL11, IL13, ALOX5, SCGB3A2, MUC7, HLA-G
Specificity
10 %
Genes
9 %
Defects in innate immunity Panel.

By CeGaT GmbH in Germany.

STAT1, TLR3, TBK1, APOL1, MYD88, CXCR4, IRAK4, NFKBIA, IL17F, CARD9, UNC93B1, TRAF3, TICAM1, TMC6, TMC8, MCM4, TRAF3IP2, IL17RA, TIRAP
Specificity
6 %
Genes
9 %
TIRAP.

By Fulgent Genetics Fulgent Genetics in United States.

TIRAP
Specificity
100 %
Genes
9 %
CISH.

By Fulgent Genetics Fulgent Genetics in United States.

CISH
Specificity
100 %
Genes
9 %
Defects of phagocytosis Panel.

By CeGaT GmbH in Germany.

HFE, STAT1, SLC37A4, DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, HAX1, AP3B1, TAZ, TCN2, SLC35C1, TCIRG1, CYBA, GATA2, SBDS, CYBB , (...)

View the complete list with 39 more genes
Specificity
2 %
Genes
9 %
Duffy (Fya/Fyb).

By BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin, part of Versiti in United States.

ACKR1
Specificity
100 %
Genes
9 %
Red Cell Genotyping Panel.

By BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin, part of Versiti in United States.

RHD, KEL, ACKR1, RHCE, SLC14A1, GYPA, GYPB, BCAM, ART4
Specificity
12 %
Genes
9 %
ACKR1.

By Fulgent Genetics Fulgent Genetics in United States.

ACKR1
Specificity
100 %
Genes
9 %
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
7 %
Genes
9 %
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
8 %
Genes
9 %
GYPC Deletion/duplication analysis.

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

GYPC
Specificity
100 %
Genes
9 %
GYPC Sequencing.

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

GYPC
Specificity
100 %
Genes
9 %
Hereditary elliptocytosis (sequence analysis of GYPC gene).

By CGC Genetics in Portugal.

GYPC
Specificity
100 %
Genes
9 %
GYPC.

By Fulgent Genetics Fulgent Genetics in United States.

GYPC
Specificity
100 %
Genes
9 %
Hereditary Elliptocytosis , Panel Massive Sequencing (NGS) 3 Genes.

By Reference Laboratory Genetics in Spain.

GYPC, EPB41, SPTA1
Specificity
34 %
Genes
9 %
Platelet Disorders.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

RUNX1, DTNBP1, HPS1, HPS6, HPS5, HPS4, HPS3, AP3B1, ANKRD26, DPAGT1, MPL, WAS, FLNA, MYH9, GATA1, BLOC1S6, LYST, VWF, GNAS, F8 , (...)

View the complete list with 35 more genes
Specificity
2 %
Genes
9 %
Bleeding Disorders Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

F2, F5, RUNX1, DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, CYCS, AP3B1, ANKRD26, MPL, WAS, FLNA, MYH9, GATA1, F11, VWF , (...)

View the complete list with 41 more genes
Specificity
2 %
Genes
9 %
Platelet Function Disorder Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, AP3B1, GP1BA, ANO6, GP6, TBXA2R, P2RX1, P2RY12, TBXAS1, PLAU, ITGA2, CD36, ITGB3, ITGA2B , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
9 %
Thrombocytopenia Sequencing Panel with CNV Detection - Expanded.

By PreventionGenetics PreventionGenetics in United States.

RUNX1, CYCS, ANKRD26, MPL, WAS, FLNA, MYH9, GATA1, ADAMTS13, ABCG5, ABCG8, GP1BA, NBEAL2, HOXA11, GFI1B, CD36, ITGB3, ITGA2B, MASTL, ETV6 , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
9 %
Platelet bleeding disorders NGS panel.

By Connective Tissue Gene Tests in United States.

DTNBP1, SMPD1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, AP3B1, GBA, WAS, MYH9, BLOC1S6, LYST, VWF, GP1BA, ANO6, GP6, TBXA2R, P2RY12 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
9 %
Platelet bleeding disorders Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

DTNBP1, SMPD1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, AP3B1, GBA, WAS, MYH9, BLOC1S6, LYST, VWF, GP1BA, ANO6, GP6, TBXA2R, P2RY12 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
9 %
Platelet bleeding disorders Comprehensive panel.

By Connective Tissue Gene Tests in United States.

DTNBP1, SMPD1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, AP3B1, GBA, WAS, MYH9, BLOC1S6, LYST, VWF, GP1BA, ANO6, GP6, TBXA2R, P2RY12 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
9 %
Platelet glycoprotein IV deficiency.

By Centogene AG - the Rare Disease Company in Germany.

CD36
Specificity
100 %
Genes
9 %
CD36.

By Fulgent Genetics Fulgent Genetics in United States.

CD36
Specificity
100 %
Genes
9 %
FoundationOne® Heme.

By Foundation Medicine, Inc. in United States.

BRCA1, BRCA2, VHL, APC, MSH2, MSH6, MLH1, MUTYH, PTEN, RUNX1, TP53, PC, FOXL2, HNF1A, WT1, RB1, RET, TNFRSF11A, CPS1, SDHC , (...)

View the complete list with 385 more genes
Specificity
1 %
Genes
9 %
Cobalamin/Propionate/Homocysteine Metabolism Related Disorders Panel, Sequencing (25 Genes) and Deletion/Duplication (24 Genes).

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

MTHFR, MMACHC, AMN, MTR, MTRR, ACSF3, SUCLA2, PCCB, PCCA, MMADHC, LMBRD1, TCN2, CUBN, GIF, MCEE, MMAB, MMAA, MUT, SUCLG1, CBS , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
9 %
FCGR2A.

By Fulgent Genetics Fulgent Genetics in United States.

FCGR2A
Specificity
100 %
Genes
9 %
NOS2.

By Fulgent Genetics Fulgent Genetics in United States.

NOS2
Specificity
100 %
Genes
9 %
Study of Molecular Markers Of Essential Hypertension and Associated Cardiovascular Events (37 genes - 57 genetic variants).

By HeartGenetics, Genetics and Biotechnology, SA in Portugal.

WNK1, HSD11B2, SLC12A3, SCNN1A, SCNN1B, CLCNKB, CLCNKA, AGTR2, NEDD4L, GNB3, ACE, NR3C2, NPPA, REN, NOS3, AGT, ECE1, ADRB2, AGTR1, STK39 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
9 %
Alzheimer: MAPT, CLU, PICALM, CR1 genes screening.

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

MAPT, PICALM, CLU, CR1
Specificity
25 %
Genes
9 %
CR1.

By Fulgent Genetics Fulgent Genetics in United States.

CR1
Specificity
100 %
Genes
9 %
ICAM1.

By Fulgent Genetics Fulgent Genetics in United States.

ICAM1
Specificity
100 %
Genes
9 %
Immune dysregulation Panel.

By CeGaT GmbH in Germany.

CASP8, AP3B1, AIRE, PRF1, TREX1, FOXP3, LYST, SH2D1A, RAB27A, UNC13D, FAS, STX11, XIAP, FASLG, CASP10, STXBP2, PRKCD, CARD11, IL2RA, ITCH , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
9 %


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like TAKENOUCHI-KOSAKI SYNDROME; TKS HYPOGONADOTROPIC HYPOGONADISM 23 WITHOUT ANOSMIA; HH23 PYLE DISEASE; PYL ACROMELIC FRONTONASAL DYSOSTOSIS; AFND BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME; BBSOAS KEPPEN-LUBINSKY SYNDROME; KPLBS

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