Preeclampsia/eclampsia 1; Pee1

Description

Preeclampsia, which along with chronic hypertension and gestational hypertension comprise the hypertensive disorders of pregnancy, is characterized by new hypertension (blood pressure 140/90 or greater) presenting after 20 weeks' gestation with clinically relevant proteinuria. Preeclampsia is 1 of the top 4 causes of maternal mortality and morbidity worldwide (summary by Payne et al., 2011).Preeclampsia is otherwise known as gestational proteinuric hypertension (Davey and MacGillivray, 1988). A high proportion of patients with preeclampsia have glomerular endotheliosis, the unique histopathologic feature of the condition (Fisher et al., 1981). A distinct form of severe preeclampsia is characterized by hemolysis, elevated liver enzymes, and low platelets (HELLP syndrome) (Brown et al., 2000). Genetic Heterogeneity of Preeclampsia/EclampsiaSusceptibility loci for preeclampsia/eclampsia include PEE1 on chromosome 2p13, PEE2 (OMIM ) on chromosome 2p25, and PEE3 (OMIM ) on chromosome 9p13. PEE4 (OMIM ) is caused by mutation in the STOX1 gene (OMIM ) on chromosome 10q22. PEE5 (OMIM ) is caused by mutation in the CORIN gene (OMIM ) on chromosome 4p12. An association with PEE has been found with the EPHX1 gene (OMIM ) on chromosome 1q.

Clinical Features

Top most frequent phenotypes and symptoms related to Preeclampsia/eclampsia 1; Pee1

  • Seizures
  • Hypertension
  • Intrauterine growth retardation
  • Edema
  • Renal insufficiency
  • Thrombocytopenia
  • Elevated hepatic transaminase
  • Proteinuria
  • Autoimmunity
  • Cerebral hemorrhage
And another 3 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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Preeclampsia/eclampsia 1; Pee1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
EPHX1 Sequencing.

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

EPHX1
Specificity
100 %
Genes
17 %
Cholestasis 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.

ABCB11, ABCB4, ATP8B1, JAG1, SLC25A13, SERPINA1, CYP7B1, TJP2, AKR1D1, VPS33B, VIPAS39, BAAT, ABCC2, CLDN1, EPHX1, SLC10A1, NOTCH2, HSD3B7
Specificity
6 %
Genes
17 %
Hepatic and pancreatic diseases - panels.

By MGZ Medical Genetics Center in Germany.

HFE, ABCB11, ABCB4, ATP7B, ATP8B1, INVS, HNF1B, TRMU, CC2D2A, JAG1, NPHP3, NPHP1, NPHP4, POLG, ALAS2, SLC25A13, SMPD1, DGUOK, FAH, MPV17 , (...)

View the complete list with 49 more genes
Specificity
2 %
Genes
17 %
EPHX1.

By Fulgent Genetics Fulgent Genetics in United States.

EPHX1
Specificity
100 %
Genes
17 %
EPHX1 Gene Sequencing and Deletion/Duplication Analysis.

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

EPHX1
Specificity
100 %
Genes
17 %
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
17 %
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
17 %
Epilepsy Gene mutation panel.

By Molecular Diagnostics Children's Hospital of Wisconsin in United States.

CYP2C19, EPHX1, CYP2C9
Specificity
34 %
Genes
17 %
Test for CD46-Related Atypical Hemolytic-Uremic Syndrome.

By Genome Diagnostics Laboratory The Hospital for Sick Children in Canada.

CD46
Specificity
100 %
Genes
17 %
AHUS/MPGN panel.

By Genome Diagnostics Laboratory The Hospital for Sick Children in Canada.

CFB, CFI, CFH, CFHR5, CD46, C3, THBD, APLN
Specificity
38 %
Genes
50 %
Genetic Renal Panel.

By Molecular Otolaryngology and Renal Research Laboratories University of Iowa Hospital and Clinics in United States.

MMACHC, CFB, CFI, CFH, CFHR5, CD46, C3, THBD, CFHR1, CFHR3, DGKE, PLG, ADAMTS13
Specificity
24 %
Genes
50 %
Atypical Hemolytic Uremic Syndrome (aHUS) Genetic Susceptibility Panel.

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

CFB, CFI, CFH, CFHR5, CD46, C3, THBD, CFHR1, CFHR3, DGKE
Specificity
30 %
Genes
50 %
MCP Sequencing.

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

CD46
Specificity
100 %
Genes
17 %
Thrombocytopenia Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

CYCS, ANKRD26, GATA2, MPL, WAS, FLNA, MYH9, GATA1, TERC, TERT, VWF, CFB, CFI, CFH, CFHR5, CD46, C3, THBD, CFHR1, CFHR3 , (...)

View the complete list with 23 more genes
Specificity
7 %
Genes
50 %
Thrombocytopenia Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

RUNX1, CYCS, ANKRD26, GATA2, MPL, WAS, FLNA, MYH9, GATA1, TERC, TERT, VWF, CFB, CFI, CFH, CFHR5, CD46, C3, THBD, CFHR1 , (...)

View the complete list with 23 more genes
Specificity
7 %
Genes
50 %
Exome PLUS Proteinuria/FSGS & Hematuria.

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

WT1, ALMS1, LMX1B, PAX2, GLA, TSC2, TSC1, COL4A3, NPHS2, NPHS1, INF2, COL4A4, LAMB2, ACTN4, PLCE1, TRPC6, COL4A5, MYH9, CFB, CFI , (...)

View the complete list with 12 more genes
Specificity
10 %
Genes
50 %
CD46. Complete sequencing.

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

CD46
Specificity
100 %
Genes
17 %
MCP. Complete sequencing.

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

CD46
Specificity
100 %
Genes
17 %
MCP. Complete sequencing.

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

CD46
Specificity
100 %
Genes
17 %
Hemolytic uremic syndrome 2, atypical (AHUS2, deletion/duplication analysis of CD46 and CFI gene).

By CGC Genetics in Portugal.

CFI, CD46
Specificity
100 %
Genes
34 %
Atypical hemolytic uremic syndrome (NGS panel for 14 genes).

By CGC Genetics in Portugal.

MMACHC, LMNA, CFB, CFI, CFH, CFHR5, CD46, C3, THBD, CFHR1, CFHR3, DGKE, ADAMTS13, CFHR4
Specificity
22 %
Genes
50 %
Hemolytic uremic syndrome, atypical 2 (sequence analysis of CD46 gene).

By CGC Genetics in Portugal.

CD46
Specificity
100 %
Genes
17 %
CD46 (MCP) Sequence Analysis.

By Translational Metabolic Laboratory Radboud University Medical Centre in Netherlands.

CD46
Specificity
100 %
Genes
17 %
Atypical hemolytic-uremic syndrome 2.

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

CD46
Specificity
100 %
Genes
17 %
AHUS/MPGN panel.

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

CFB, CFI, CFH, CFHR5, CD46, C3, THBD, CFHR1, CFHR3, ADAMTS13, CFHR4, CLU, CFHR2
Specificity
24 %
Genes
50 %
Atypical Hemolytic-Uremic Syndrome Panel.

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

CFB, CFI, CFH, CFHR5, CD46, C3, THBD, CFHR1, CFHR3, ADAMTS13, CFHR4, CLU, CFHR2
Specificity
24 %
Genes
50 %
Atypical hemolytic uremic syndrome susceptibility and related disorders NGS panel.

By Connective Tissue Gene Tests in United States.

MMACHC, CFB, CFI, CFH, CFHR5, CD46, C3, THBD, CFHR1, CFHR3, DGKE, ADAMTS13, CFHR2
Specificity
24 %
Genes
50 %
Atypical hemolytic uremic syndrome susceptibility and related disorders Deletion/ Duplication panel.

By Connective Tissue Gene Tests in United States.

MMACHC, CFB, CFI, CFH, CFHR5, CD46, C3, THBD, CFHR1, CFHR3, DGKE, ADAMTS13, CFHR2
Specificity
24 %
Genes
50 %
Atypical hemolytic uremic syndrome susceptibility and related disorders Comprehensive panel.

By Connective Tissue Gene Tests in United States.

MMACHC, CFB, CFI, CFH, CFHR5, CD46, C3, THBD, CFHR1, CFHR3, DGKE, ADAMTS13, CFHR2
Specificity
24 %
Genes
50 %
Atypical hemolytic uremic syndrome.

By Northern Molecular Genetics Service Newcastle Upon Tyne Hospitals NHS Foundation Trust in United Kingdom.

MMACHC, INF2, CFB, CFI, CFH, CD46, C3, THBD, DGKE, ADAMTS13, C5
Specificity
28 %
Genes
50 %
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
50 %
Atypical hemplytic-uremic syndrome.

By Institute of Human Genetics Cologne University in Germany.

MMACHC, CFI, CFH, CD46, C3, DGKE
Specificity
50 %
Genes
50 %
CD46-Related Atypical Hemolytic-Uremic Syndrome.

By Bioscientia GmbH Center for Human Genetics in Germany.

CD46
Specificity
100 %
Genes
17 %
CD46.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

CD46
Specificity
100 %
Genes
17 %
Atypical hemolytic uremic syndrome panel.

By Centogene AG - the Rare Disease Company in Germany.

CFB, CFI, CFH, CFHR5, CD46, C3, THBD, CFHR1, CFHR3, DGKE, ADAMTS13, CFHR4, CFHR2
Specificity
24 %
Genes
50 %
Hemolytic uremic syndrome.

By Centogene AG - the Rare Disease Company in Germany.

CD46
Specificity
100 %
Genes
17 %
Hemolytic Uremic Syndrome Panel.

By CeGaT GmbH in Germany.

CFB, CFI, CFH, CFHR5, CD46, C3, THBD, CFHR1, CFHR3, DGKE, ADAMTS13, CFHR4
Specificity
25 %
Genes
50 %
Complement deficiencies Panel.

By CeGaT GmbH in Germany.

PIGA, CFB, CFI, CFH, CD46, C3, THBD, C1S, C1R, CFHR1, CFHR3, DGKE, MASP1, C7, FCN3, CFD, C2, SERPING1, C1QC, C1QA , (...)

View the complete list with 14 more genes
Specificity
9 %
Genes
50 %
CD46-Related Atypical Hemolytic-Uremic Syndrome.

By GGA - Galil Genetic Analysis in Israel.

CD46
Specificity
100 %
Genes
17 %
Test for CD46-Related Atypical Hemolytic-Uremic Syndrome.

By Secugen SL in Spain.

CD46
Specificity
100 %
Genes
17 %
aHUS/DDD Genetic Evaluation.

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

LMNA, CFB, CFI, CFH, CFHR5, CD46, C3, THBD, CFHR1, CFHR3, DGKE, ADAMTS13, CFHR4, C4BPA, C4BPB
Specificity
20 %
Genes
50 %
aCGH Deletion/Duplication Analysis.

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

F2, F5, RUNX1, COL1A1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, CYCS, HAX1, ENG, MPL, WAS, LMNA, MYH9, GATA1, BLOC1S6, ACVRL1 , (...)

View the complete list with 45 more genes
Specificity
5 %
Genes
50 %
Hemolytic uremic syndrome: CD46 (MCP) gene sequence analysis.

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

CD46
Specificity
100 %
Genes
17 %
Hemolytic uremic syndrome: CD46 gene deletions-duplications analysis (MLPA).

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

CD46
Specificity
100 %
Genes
17 %
Hemolytic-uremic, syndrome.

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

CFB, CFI, CFH, CFHR5, CD46, C3, THBD, CFHR1, CFHR3, CFHR4, CFHR2
Specificity
28 %
Genes
50 %
CD46.

By Fulgent Genetics Fulgent Genetics in United States.

CD46
Specificity
100 %
Genes
17 %
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
2 %
Genes
50 %
Complement System Disorder Panel.

By Blueprint Genetics in Finland.

CCDC39, PIGA, OFD1, CCNO, SPAG1, CCDC65, DNAAF4, RSPH1, ARMC4, ZMYND10, DRC1, CCDC114, LRRC6, DNAAF5, CCDC103, DNAAF3, DNAL1, CCDC40, DNAAF1, RSPH9 , (...)

View the complete list with 55 more genes
Specificity
4 %
Genes
50 %
Hemolytic Uremic Syndrome Panel.

By Blueprint Genetics in Finland.

CFB, CFI, CFH, CFHR5, CD46, C3, THBD, DGKE, ADAMTS13
Specificity
34 %
Genes
50 %
Van Der Woude syndrome.

By Bioarray in Spain.

CD46
Specificity
100 %
Genes
17 %
Atypical hemolytic uremic syndrome 2.

By Bioarray in Spain.

CD46
Specificity
100 %
Genes
17 %
aHUS/TMA/C3 Glomerulopathy Gene Set.

By Genomics and Pathology Services Washington University in St. Louis in United States.

CFB, CFI, CFH, CFHR5, CD46, C3, THBD, CFHR1, CFHR3, DGKE, ADAMTS13, CFHR4, CFHR2
Specificity
24 %
Genes
50 %
ATYPICAL HEMOLYTIC UREMIC SYNDROME.

By Laboratorio de Genetica Clinica SL in Spain.

CFB, CFI, CFH, CD46, THBD, DGKE
Specificity
50 %
Genes
50 %
ATYPICAL HEMOLYTIC UREMIC SYNDROME: NGS PANEL.

By Laboratorio de Genetica Clinica SL in Spain.

MMACHC, CFB, CFI, CFH, CFHR5, CD46, C3, THBD, C1S, CFHR1, CFHR3, DGKE, C2, C9, C8A
Specificity
20 %
Genes
50 %
Atypical Hemolytic Uremic Syndrome , Sequencing CD46 (MCP) Gene.

By Reference Laboratory Genetics in Spain.

CD46
Specificity
100 %
Genes
17 %
Atypical Hemolytic Uremic Syndrome, Deletions-Duplications (MLPA) CD46 (MCP) Gene.

By Reference Laboratory Genetics in Spain.

CD46
Specificity
100 %
Genes
17 %
Atypical Hemolytic Uremic Syndrome , Panel Massive Sequencing (NGS) 10 Genes.

By Reference Laboratory Genetics in Spain.

CFB, CFI, CFH, CFHR5, CD46, C3, THBD, CFHR1, CFHR3, CFHR4
Specificity
30 %
Genes
50 %
Complement System (Genetic Study) , Panel Massive Sequencing (NGS) 12 Genes.

By Reference Laboratory Genetics in Spain.

CFB, CFI, CFH, CFHR5, CD46, C3, THBD, CFHR1, CFHR3, DGKE, ADAMTS13, CFP
Specificity
25 %
Genes
50 %
Test for CFI-Related Atypical Hemolytic-Uremic Syndrome.

By Genome Diagnostics Laboratory The Hospital for Sick Children in Canada.

CFI
Specificity
100 %
Genes
17 %
CFI Sequencing.

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

CFI
Specificity
100 %
Genes
17 %
CFI Deletion/duplication analysis.

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

CFI
Specificity
100 %
Genes
17 %
aHUS Genetic Susceptibility Deletion/duplication panel.

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

CFB, CFI, C3, THBD, DGKE
Specificity
20 %
Genes
17 %
CFI. Complete sequencing.

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

CFI
Specificity
100 %
Genes
17 %
CFI. Complete sequencing.

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

CFI
Specificity
100 %
Genes
17 %
Atypical hemolytic-uremic syndrome (sequence analysis of CFI gene).

By CGC Genetics in Portugal.

CFI
Specificity
100 %
Genes
17 %
CFI Sequence Analysis.

By Translational Metabolic Laboratory Radboud University Medical Centre in Netherlands.

CFI
Specificity
100 %
Genes
17 %
Atypical hemolytic-uremic syndrome 3.

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

CFI
Specificity
100 %
Genes
17 %
Complement factor I deficiency.

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

CFI
Specificity
100 %
Genes
17 %
CFI-Related Atypical Hemolytic-Uremic Syndrome.

By Bioscientia GmbH Center for Human Genetics in Germany.

CFI
Specificity
100 %
Genes
17 %
CFI.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

CFI
Specificity
100 %
Genes
17 %
Hemolytic uremic syndrome.

By Centogene AG - the Rare Disease Company in Germany.

CFI
Specificity
100 %
Genes
17 %
Test for CFI-Related Atypical Hemolytic-Uremic Syndrome.

By Secugen SL in Spain.

CFI
Specificity
100 %
Genes
17 %
Macular Degeneration NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

FBLN5, TLR4, ELOVL4, ABCA4, CNGB3, PRPH2, RPGR, RLBP1, EFEMP1, HTRA1, RAX2, HMCN1, ERCC6, CFB, CFI, CFH, C3, C2, CST3, CX3CR1
Specificity
10 %
Genes
34 %
CFI.

By Fulgent Genetics Fulgent Genetics in United States.

CFI
Specificity
100 %
Genes
17 %
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
17 %
Complement factor I deficiency.

By Bioarray in Spain.

CFI
Specificity
100 %
Genes
17 %
Afibrinogenemia.

By Bioarray in Spain.

CFI
Specificity
100 %
Genes
17 %
Atypical Hemolytic Uremic Syndrome, Sequencing CFI Gene.

By Reference Laboratory Genetics in Spain.

CFI
Specificity
100 %
Genes
17 %
Atypical Hemolytic Uremic Syndrome , Deletions-Duplications (MLPA) CFI Gene.

By Reference Laboratory Genetics in Spain.

CFI
Specificity
100 %
Genes
17 %
Macular Degeneration Related Disorders , Panel Massive Sequencing (NGS) 15 Genes.

By Reference Laboratory Genetics in Spain.

FBLN5, ABCA4, HTRA1, RAX2, HMCN1, ERCC6, CFB, CFI, CFH, C3, C2, CST3, ARMS2, C9, CX3CR1
Specificity
14 %
Genes
34 %
Test for CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II.

By Genome Diagnostics Laboratory The Hospital for Sick Children in Canada.

CFH
Specificity
100 %
Genes
17 %
Test for CFH-Related Atypical Hemolytic-Uremic Syndrome.

By Genome Diagnostics Laboratory The Hospital for Sick Children in Canada.

CFH
Specificity
100 %
Genes
17 %
CFH Sequencing.

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

CFH
Specificity
100 %
Genes
17 %
CFH mutation analysis.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands.

CFH
Specificity
100 %
Genes
17 %
CFH. Complete sequencing.

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

CFH
Specificity
100 %
Genes
17 %
CFH. Complete sequencing.

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

CFH
Specificity
100 %
Genes
17 %
Hemolytic uremic syndrome 1, atypical (sequence analysis of CFH gene).

By CGC Genetics in Portugal.

CFH
Specificity
100 %
Genes
17 %
Hemolytic uremic syndrome 1, atypical (AHUS1, deletions/ duplications analysis on CFH gene).

By CGC Genetics in Portugal.

CFH
Specificity
100 %
Genes
17 %
CFH Sequence Analysis.

By Translational Metabolic Laboratory Radboud University Medical Centre in Netherlands.

CFH
Specificity
100 %
Genes
17 %
Atypical hemolytic-uremic syndrome 1.

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

CFH, CFHR1, CFHR3
Specificity
34 %
Genes
17 %
Test for CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II.

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

CFH
Specificity
100 %
Genes
17 %
Macular degeneration, age-related, 4.

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

CFH
Specificity
100 %
Genes
17 %
Membranoproliferative glomerulonephritis.

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

MTHFR, CFH, CFHR5, C1QB, PLA2R1
Specificity
20 %
Genes
17 %
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, C12orf65, INVS, NEUROD1, SPATA7, MMACHC, FBLN5, LRP5, COL2A1, PRKCG, CHM, PDZD7, RP1, INPP5E, AMACR , (...)

View the complete list with 285 more genes
Specificity
1 %
Genes
17 %
CFH-Related Atypical Hemolytic-Uremic Syndrome.

By Bioscientia GmbH Center for Human Genetics in Germany.

CFH
Specificity
100 %
Genes
17 %
Age-related macular degeneration (ARMD).

By Centogene AG - the Rare Disease Company in Germany.

CFH
Specificity
100 %
Genes
17 %
Single gene testing CFH.

By CeGaT GmbH in Germany.

CFH
Specificity
100 %
Genes
17 %
Syndromes with immunodeficiency Panel.

By CeGaT GmbH in Germany.

PMS2, STAT3, BLM, RMRP, RUNX2, TINF2, FGFR2, ATM, MRE11, NBN, WAS, SAMHD1, RNASEH2A, RNASEH2C, RNASEH2B, TREX1, TBX1, NLRP3, DKC1, TERC , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
17 %
Eye diseases comprehensive panel.

By Asper Biogene Asper Biogene LLC in Estonia.

ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, INVS, OPN1MW, SPATA7, TYRP1, LRP5, COL2A1, VSX1, SLC45A2, PAX6, ZEB1, CHM, TGFBI, PITX3, TYR , (...)

View the complete list with 255 more genes
Specificity
1 %
Genes
17 %
Retinal Dystrophy Panel.

By Molecular Vision Laboratory in United States.

ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, C12orf65, INVS, OPN1MW, OPN1LW, NEUROD1, SPATA7, MMACHC, LRP5, CHM, PDZD7, RP1, INPP5E, AMACR, OPA1 , (...)

View the complete list with 267 more genes
Specificity
1 %
Genes
17 %
MVL Vision Panel.

By Molecular Vision Laboratory in United States.

ZNF513, USH1G, USH1C, BEST1, C12orf65, INVS, OPN1MW, OPN1LW, NEUROD1, SPATA7, MMACHC, LRP5, CHM, PDZD7, RP1, INPP5E, OPA1, WFS1, CC2D2A, ELOVL4 , (...)

View the complete list with 248 more genes
Specificity
1 %
Genes
17 %
Test for CFH-Related Atypical Hemolytic-Uremic Syndrome.

By Secugen SL in Spain.

CFH
Specificity
100 %
Genes
17 %
Hemolytic uremic syndrome: CFH (HF1) gene sequence analysis (exons 18-22).

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

CFH
Specificity
100 %
Genes
17 %
Hemolytic uremic syndrome: CFH gene sequence analysis.

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

CFH
Specificity
100 %
Genes
17 %
CFH.

By Fulgent Genetics Fulgent Genetics in United States.

CFH
Specificity
100 %
Genes
17 %
Macular Degeneration Mutation Analysis.

By Quest Diagnostics Nichols Institute San Juan Capistrano in United States.

CFH, ARMS2
Specificity
50 %
Genes
17 %
Macular Degeneration Mutation Analysis (NY).

By Quest Diagnostics Nichols Institute San Juan Capistrano in United States.

CFH, ARMS2
Specificity
50 %
Genes
17 %
Atypical hemolytic uremic syndrome 1.

By Bioarray in Spain.

CFH
Specificity
100 %
Genes
17 %
Complement factor H deficiency.

By Bioarray in Spain.

CFH
Specificity
100 %
Genes
17 %
BENIGN FAMILIAL HEMATURIA.

By Laboratorio de Genetica Clinica SL in Spain.

COL4A3, CFH
Specificity
50 %
Genes
17 %
Atypical Hemolytic Uremic Syndrome, Sequencing CFH Gene.

By Reference Laboratory Genetics in Spain.

CFH
Specificity
100 %
Genes
17 %
Atypical Hemolytic Uremic Syndrome, Sequencing Exons (18-22) CFH (HF1) Gene.

By Reference Laboratory Genetics in Spain.

CFH
Specificity
100 %
Genes
17 %
Atypical Hemolytic Uremic Syndrome , Deletions-Duplications (MLPA) CFH Gene.

By Reference Laboratory Genetics in Spain.

CFH
Specificity
100 %
Genes
17 %
NOS3. Complete sequencing.

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

NOS3
Specificity
100 %
Genes
17 %
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
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
17 %
NOS3.

By Fulgent Genetics Fulgent Genetics in United States.

NOS3
Specificity
100 %
Genes
17 %
Endothelial Nitric Oxide Synthase.

By Molecular Diagnostics Laboratories in United States.

NOS3
Specificity
100 %
Genes
17 %
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
17 %
Essential hypertension.

By Bioarray in Spain.

NOS3
Specificity
100 %
Genes
17 %

Alternate names

Preeclampsia/eclampsia 1; Pee1 Is also known as preg1, pee, toxemia of pregnancy;hemolysis, elevated liver enzymes, low platelets in pregnancy; hemolysis-elevated liver enzymes-low platelets syndrome.



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like STRIATONIGRAL DEGENERATION, CHILDHOOD-ONSET; SNDC FAMILIAL ALZHEIMER-LIKE PRION DISEASE CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY; CCFDN HAIM-MUNK SYNDROME; HMS

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