Anencephaly; Anph

Description

Anencephaly is a neural tube defect. This malformation is characterized by the total or partial absence of the cranial vault and the covering skin, the brain being missing or reduced to a small mass. Most cases are stillborn, although some infants have been reported to survive for a few hours or even a few days.

Clinical Features

Phenotypes and symptoms related to Anencephaly; Anph

  • Hernia
  • Congenital diaphragmatic hernia
  • Spina bifida
  • Anencephaly
  • Primary adrenal insufficiency
  • Abnormality of the diaphragm

Incidence and onset information

— Based on the latest data available Anencephaly; Anph have a estimated birth prevalence of 35 per 100k worldwide.


Mendelian

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Anencephaly; Anph Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MTHFR.

By Molecular Diagnostic Laboratory Kingston General Hospital in Canada.

MTHFR
Specificity
100 %
Genes
34 %
MitoMet®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories in United States.

BRCA1, MTHFR, UBE3A, VHL, MUTYH, TP53, MCCC1, MCCC2, AARS2, ABCB11, ABCB4, ABHD12, ACACA, ACAD9, ACADM, ACADS, AGL, ACADVL, ACAT1, ZNF513 , (...)

View the complete list with 617 more genes
Specificity
1 %
Genes
34 %
MTHFR Thermolabile Variant Analysis.

By Baylor Miraca Genetics Laboratories in United States.

MTHFR
Specificity
100 %
Genes
34 %
Thrombophilia Mutation Panel.

By Baylor Miraca Genetics Laboratories in United States.

F2, F5, MTHFR
Specificity
34 %
Genes
34 %
NGS Epilepsy/Seizure Panel.

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

MTHFR, UBE3A, ADSL, SHH, POLG, SLC25A19, MECP2, LIAS, ABAT, GAMT, GATM, STXBP1, CTSD, SLC25A22, SLC9A6, ALDH7A1, NDUFA1, TPP1, CLN3, ARX , (...)

View the complete list with 125 more genes
Specificity
1 %
Genes
34 %
MTHFR deficiency, thermolabile type.

By Center for Human Genetics, Inc in United States.

MTHFR
Specificity
100 %
Genes
34 %
Methylenetetrahydrofolate Reductase Deficiency.

By Clinical Molecular Genetics Laboratory Johns Hopkins All Children's Hospital in United States.

MTHFR
Specificity
100 %
Genes
34 %
MTHFR Analysis.

By Molecular Pathology Laboratory Ohio State University in United States.

MTHFR
Specificity
100 %
Genes
34 %
Methylmalonic Acidemia Sequencing NextGen Panel.

By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado in United States.

MTHFR, MTR, ACSF3, SUCLA2, TCN2, GIF, MCEE, MMAB, MMAA, IVD, CBS, CD320, TCN1
Specificity
8 %
Genes
34 %
MTHFR (Methylenetetrahydrofolate Reductase).

By Center for Genetics at Saint Francis Saint Francis Hospital in United States.

MTHFR
Specificity
100 %
Genes
34 %
Hypercoagability Risk Panel.

By Genetics Laboratory - Department of Pathology Rush University Medical Center in United States.

F2, F5, MTHFR
Specificity
34 %
Genes
34 %
Epilepsy/Seizure.

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

MTHFR, UBE3A, BTD, ADSL, MMACHC, ADGRV1, POLG, MECP2, LIAS, ABAT, GAMT, GATM, STXBP1, CTSD, SLC25A22, GLDC, AMT, SLC9A6, ALDH5A1, ALDH7A1 , (...)

View the complete list with 78 more genes
Specificity
2 %
Genes
34 %
Infantile Epilepsy.

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

MTHFR, UBE3A, BTD, ADSL, MMACHC, POLG, MECP2, LIAS, GAMT, STXBP1, CTSD, SLC25A22, GLDC, AMT, SLC9A6, ALDH5A1, ALDH7A1, PTS, QDPR, TPP1 , (...)

View the complete list with 40 more genes
Specificity
2 %
Genes
34 %
Methylene Tetrahydrofolate Reductase genotyping.

By Molecular Genetics Diagnostic Laboratory Detroit Medical Center University Laboratories in United States.

MTHFR
Specificity
100 %
Genes
34 %
MTHFR Targeted Mutation Analysis.

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

MTHFR
Specificity
100 %
Genes
34 %
MTHFR Deletion/duplication analysis.

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

MTHFR
Specificity
100 %
Genes
34 %
MTHFR.

By United States Air Force Molecular Diagnostic Laboratory United States Air Force in United States.

MTHFR
Specificity
100 %
Genes
34 %
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
34 %
Thrombotic Risk, DNA Panel.

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

F5, MTHFR
Specificity
50 %
Genes
34 %
Thrombophilic Polymorphism Panel (Factor V Leiden, Prothrombin G20210A, MTHFR C677T, MTHFR A1298C).

By Molecular Diagnostic Laboratory Nebraska Medicine in United States.

F2, F5, MTHFR
Specificity
34 %
Genes
34 %
MTHFR.

By Molecular Diagnostic Laboratory Nebraska Medicine in United States.

MTHFR
Specificity
100 %
Genes
34 %
Hereditary Spastic Paraplegia Related Inborn Errors of Metabolism Panel.

By GeneDx in United States.

MTHFR, ARG1, BTD, MMACHC, OPA3, SPR, ABCD1, PTS, GALC, GBE1, CYP27A1, ARSA, TH, GCH1
Specificity
8 %
Genes
34 %
MTHFR Thermolabile Variant.

By GENE Núcleo de Genética Médica de Minas Gerais in Brazil.

MTHFR
Specificity
100 %
Genes
34 %
MTHFR Deficiency.

By Clinic of Pediatrics and Adolescent Medicine General University Hospital in Prague and First Faculty of Medicine, Charles University in Prague in Czech Republic.

MTHFR
Specificity
100 %
Genes
34 %
NGS Neurodegenerative disorders Multi-Gene Panel (73 genes).

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

MTHFR, ARG1, HLCS, BCKDHA, BCKDHB, ADSL, MMACHC, MTR, MTRR, CPS1, HPRT1, DLD, COQ9, PDSS2, PDSS1, GAMT, GATM, SPR, COQ8A, COQ2 , (...)

View the complete list with 40 more genes
Specificity
2 %
Genes
34 %
MTHFR, FII, FV, PAI. Simultaneous analysis of the polymorphims FII (c.20210G>A), FV (p.R506Q), MTHFR (c.677C>T) and 5G/4G in the 5´UTR region of the PAI gene.

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

F2, F5, MTHFR, SERPINE1
Specificity
25 %
Genes
34 %
MTHFR, FII, FV. Simultaneous analysis of the polymorphims FII (20210G>A), FV (p.Arg506Gln), MTHFR (c.677C>T) and MTHFR (c.1298A>C).

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

F2, F5, MTHFR
Specificity
34 %
Genes
34 %
MTHFR, FII, FV. Simultaneous analysis of the polymorphims FII (20210G>A), FV (p.Arg506Gln) and MTHFR (c.677C>T).

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

F2, F5, MTHFR
Specificity
34 %
Genes
34 %
MTHFR MUTATIONS.

By Molecular Pathology New York Presbyterian Hospital - Weill Cornell Medical Center in United States.

MTHFR
Specificity
100 %
Genes
34 %
MTHFR deficiency, thermolabile type.

By CGC Genetics in Portugal.

MTHFR
Specificity
100 %
Genes
34 %
5-fluorouracil toxicity (2 alleles on MTHFR, 1 allele on TYMS and 1 allele on DPYD genes).

By CGC Genetics in Portugal.

MTHFR, DPYD, TYMS
Specificity
34 %
Genes
34 %
MTHFR gene (sequence analysis).

By CGC Genetics in Portugal.

MTHFR
Specificity
100 %
Genes
34 %
Epileptic encephalopathy (NGS panel for 67 genes).

By CGC Genetics in Portugal.

MTHFR, UBE3A, ADSL, CPT2, MECP2, GAMT, STXBP1, SLC25A22, GCSH, GLDC, AMT, SLC9A6, ALDH7A1, WWOX, ARX, CDKL5, FOXG1, PCDH19, SLC2A1, SYNGAP1 , (...)

View the complete list with 47 more genes
Specificity
2 %
Genes
34 %
Thrombophilia (F2 + FV Leiden + MTHFR genes) and PAI-1 deficiency frequent mutations on SERPINE1 gene).

By CGC Genetics in Portugal.

F2, F5, MTHFR, SERPINE1
Specificity
25 %
Genes
34 %
MTHFR Sequence Analysis.

By Translational Metabolic Laboratory Radboud University Medical Centre in Netherlands.

MTHFR
Specificity
100 %
Genes
34 %
Folate polymorphism , MTHFR.

By Institute of Medical Genetics and Genomics Sir Ganga Ram Hospital in India.

MTHFR
Specificity
100 %
Genes
34 %
Homocysteinemia due to MTHFR deficiency.

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

MTHFR
Specificity
100 %
Genes
34 %
MTHFR deficiency, thermolabile type.

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

MTHFR
Specificity
100 %
Genes
34 %
MTHFR Deficiency.

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

MTHFR
Specificity
100 %
Genes
34 %
Membranoproliferative glomerulonephritis.

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

MTHFR, CFH, CFHR5, C1QB, PLA2R1
Specificity
20 %
Genes
34 %
Homocystinuria Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

MTHFR, MTR, MTRR, MMADHC, CBS
Specificity
20 %
Genes
34 %
Disorders Related to Metabolism of Cobalamin, Folate and Homocysteine Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

MTHFR, MMACHC, AMN, MTR, MTRR, ACSF3, ALDH6A1, SUCLA2, PCCB, PCCA, MMADHC, LMBRD1, TCN2, CUBN, GIF, MCEE, MMAB, MMAA, MUT, MLYCD , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
34 %
Disorders of Folate Metabolism and Transport Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

MTHFR, FOLR1, SLC46A1
Specificity
34 %
Genes
34 %
Severe MTHFR Deficiency via MTHFR Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

MTHFR
Specificity
100 %
Genes
34 %
Thrombophilia, targeted F2, F5, MTHFR mutation testing.

By Molecular Diagnostics Laboratory University Health Network in Canada.

F2, F5, MTHFR
Specificity
34 %
Genes
34 %
MTHFR Thermolabile Variant.

By MGZ Medical Genetics Center in Germany.

MTHFR
Specificity
100 %
Genes
34 %
Neurogenetic Disorders - panels.

By MGZ Medical Genetics Center in Germany.

MTHFR, TTR, UBE3A, AARS2, ABHD12, ACAD9, ACADM, ACADS, AGL, ACADVL, YARS2, PC, UQCRQ, ARG1, UQCRB, ATP5F1E, ATP7B, ATPAF2, AUH, BCKDHA , (...)

View the complete list with 577 more genes
Specificity
1 %
Genes
34 %
MTHFR Thermolabile Variant p.A222V.

By FirmaLab in United States.

MTHFR
Specificity
100 %
Genes
34 %
MTHFR deficiency.

By DNA Diagnostics Laboratory University Hospital Ostrava in Czech Republic.

MTHFR
Specificity
100 %
Genes
34 %
Hyperhomocysteïnemia due to methylene tetrahydrofolate reductase (MTHFR) deficiency.

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

MTHFR
Specificity
100 %
Genes
34 %
Thrombophilia Panel.

By GeneTech ATS GeneTech Private Limited in India.

F2, F5, MTHFR
Specificity
34 %
Genes
34 %
Methylenetetrahydrofolate Reductase Deficiency (MTHFR).

By Laboratory Medicine Center BioLab spol. s.r.o. Klatovy in Czech Republic.

MTHFR
Specificity
100 %
Genes
34 %
Metabolic disease with epilepsy panel.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

MTHFR, ADSL, CPT2, GAMT, CTSD, GCSH, GLDC, AMT, ALDH7A1, TPP1, CLN3, SLC2A1, CLN6, CLN8, PPT1, CLN5, FOLR1, PNPO, DNAJC5, MFSD8 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
34 %
Homocystinuria.

By Centogene AG - the Rare Disease Company in Germany.

MTHFR
Specificity
100 %
Genes
34 %
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
34 %
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
34 %
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
34 %
MTHFR deficiency.

By Molecular Haemostasis & Thrombosis GSTS Pathology - Guy's and St. Thomas' NHS Foundation Trust in United Kingdom.

MTHFR
Specificity
100 %
Genes
34 %
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
34 %
Homocysteinemia due to MTHFR deficiency.

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

MTHFR
Specificity
100 %
Genes
34 %
MTHFR.

By Medical Genetics Institute Shaare Zedek Medical Center in Israel.

MTHFR
Specificity
100 %
Genes
34 %
Epileptic Encephalopathy Panel.

By CeGaT GmbH in Germany.

MTHFR, UBE3A, ADSL, CPT2, MECP2, GAMT, STXBP1, SLC25A22, GCSH, GLDC, AMT, SLC9A6, ALDH7A1, MOCS2, MOCS1, ARX, CDKL5, FOXG1, MEF2C, PCDH19 , (...)

View the complete list with 57 more genes
Specificity
2 %
Genes
34 %
Metabolic Epilepsy Panel.

By CeGaT GmbH in Germany.

MTHFR, ARG1, BTD, ADSL, PRODH, GNE, FH, GAMT, ATIC, GCSH, GLDC, AMT, SUOX, ALDH5A1, ALDH7A1, PTS, QDPR, MOCS2, MOCS1, ALDH4A1 , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
34 %
Hereditary Spastic Paraplegias (HSP) and differential diagnoses Panel.

By CeGaT GmbH in Germany.

MTHFR, ABHD12, ARG1, ATP7A, AUH, C12orf65, PSEN1, OPTN, OPA1, GLB1, ELOVL4, HSPD1, GARS, AFG3L2, PANK2, OPA3, VCP, ALDH18A1, MTPAP, SPR , (...)

View the complete list with 123 more genes
Specificity
1 %
Genes
34 %
MTHFR gene variants.

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

MTHFR
Specificity
100 %
Genes
34 %
MTHFR Deficiency.

By Centre for Inherited Metabolic Diseases Karolinska University Hospital in Sweden.

MTHFR
Specificity
100 %
Genes
34 %
MTHFR Thermolabile Variant (677C>T, Ala222Val).

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

MTHFR
Specificity
100 %
Genes
34 %
Thrombophilia.

By Asper Biogene Asper Biogene LLC in Estonia.

F2, F5, MTHFR
Specificity
34 %
Genes
34 %
Methylmalonic Aciduria and Homocystinuria.

By Asper Biogene Asper Biogene LLC in Estonia.

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

View the complete list with 3 more genes
Specificity
5 %
Genes
34 %
MTHFR.

By Cytogenetics and Molecular Genetics Laboratory Mercy St. Vincent Medical Center in United States.

MTHFR
Specificity
100 %
Genes
34 %
MTHFR, 1298A>C.

By Molecular Diagnostics Laboratory Seoul National University Hospital in South Korea.

MTHFR
Specificity
100 %
Genes
34 %
MTHFR Thermolabile Variant.

By Cytogenetics and Molecular Diagnostics Lab CGC Genetics USA in United States.

MTHFR
Specificity
100 %
Genes
34 %
MTHFR deficiency.

By Praxis fuer Humangenetik Wien in Austria.

MTHFR
Specificity
100 %
Genes
34 %
MTHFR.

By Division Human Genetics Medical University Innsbruck in Austria.

MTHFR
Specificity
100 %
Genes
34 %
Methylenetetrahydrofolate reductase (MTHFR) polymorphism.

By Molecular Diagnosis Centre National University Hospital in Singapore.

MTHFR
Specificity
100 %
Genes
34 %
Family Prep Screen.

By Counsyl in United States.

F2, F5, FMR1, HFE, MTHFR, ACADM, ACADS, AGL, ACADVL, ALDOB, ALPL, BTD, ATP7B, BCKDHB, BCS1L, GAA, HBB, CHM, SLC37A4, HSD17B4 , (...)

View the complete list with 90 more genes
Specificity
1 %
Genes
34 %
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
34 %
Invitae Homocystinuria Panel.

By Invitae in United States.

MTHFR, MTR, MTRR, CBS
Specificity
25 %
Genes
34 %
Invitae Treatable Neurometabolic Disorders Panel.

By Invitae in United States.

MTHFR, MCCC1, MCCC2, ACAT1, ARG1, HLCS, ATP7A, BTD, ATP7B, AUH, BCKDHA, BCKDHB, MMACHC, AMN, MTR, MTRR, CPS1, HSD17B10, DLD, SLC25A13 , (...)

View the complete list with 72 more genes
Specificity
2 %
Genes
34 %
MTHFR deficiency: MTHFR gene mutations analysis (C677T and A1298C).

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

MTHFR
Specificity
100 %
Genes
34 %
Glaucoma (Advance).

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

MTHFR, TTR, BEST1, PAX6, PITX3, OPTN, OPA1, FOXC1, MFRP, CYP1B1, RRM2B, RPGRIP1, CA4, LMX1B, MYOC, RPS19, SBF2, POMT1, ISPD, CANT1 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
34 %
Epilepsy and Seizure Disorders: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

MTHFR, UBE3A, ADSL, ADGRV1, SHH, POLG, SLC25A19, MECP2, LIAS, ABAT, GAMT, GATM, STXBP1, CTSD, SLC25A22, SLC9A6, ALDH5A1, ALDH7A1, NDUFA1, CYP27A1 , (...)

View the complete list with 90 more genes
Specificity
1 %
Genes
34 %
Epilepsy and Seizure Disorders: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

MTHFR, UBE3A, ADSL, ADGRV1, SHH, POLG, SLC25A19, MECP2, LIAS, ABAT, GAMT, GATM, STXBP1, CTSD, SLC25A22, SLC9A6, ALDH7A1, NDUFA1, TPP1, CLN3 , (...)

View the complete list with 87 more genes
Specificity
1 %
Genes
34 %
Methylenetetrahydrofolate Reductase.

By Quest Diagnostics Nichols Institute Chantilly in United States.

MTHFR
Specificity
100 %
Genes
34 %
Cardiac Medication Metabolism.

By Molecular Diagnostics and Toxicology Laboratory in United States.

F2, F5, MTHFR, APOE, CYP2C19, CYP2D6, CYP2C9
Specificity
15 %
Genes
34 %
Comprehensive Medication Metabolism.

By Molecular Diagnostics and Toxicology Laboratory in United States.

F2, F5, MTHFR, APOE, CYP2C19, CYP2D6, CYP2C9
Specificity
15 %
Genes
34 %
Expanded Comprehensive Medication Metabolism.

By Molecular Diagnostics and Toxicology Laboratory in United States.

F2, F5, MTHFR, APOE, CYP2C19, CYP2D6, CYP2C9
Specificity
15 %
Genes
34 %
Cobalamin Homocysteine Methionine Deficiency NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

MTHFR, MMACHC, MTR, MTRR, ALDH6A1, MMADHC, LMBRD1, TCN2, MCEE, MMAB, MMAA, MUT, CBS, AHCY, GNMT, CD320, MAT1A, CTH, ADK, FOLH1
Specificity
5 %
Genes
34 %
Epilepsy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

MTHFR, UBE3A, PC, ARG1, BTD, ATPAF2, BCS1L, C12orf65, ADSL, PAX6, CPT2, PSAP, GNPTAB, GLB1, CC2D2A, PRODH, ATP6V0A2, GNE, HSD17B10, TMEM67 , (...)

View the complete list with 323 more genes
Specificity
1 %
Genes
34 %
Glaucoma NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

MTHFR, TTR, BEST1, PAX6, PITX3, OPTN, OPA1, FOXC1, CYP1B1, RRM2B, CA4, LMX1B, MYOC, RPS19, SBF2, POMT1, ISPD, CANT1, ACVR1, LTBP2 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
34 %
Intellectual Disability NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

BRCA2, F5, FMR1, MTHFR, TTR, UBE3A, PTEN, MCCC1, MCCC2, AGL, ACAT1, GYS2, ARG1, ATP7A, AUH, BCS1L, ADSL, FBLN5, LRP5, COL1A2 , (...)

View the complete list with 372 more genes
Specificity
1 %
Genes
34 %
MTHFR.

By Fulgent Genetics Fulgent Genetics in United States.

MTHFR
Specificity
100 %
Genes
34 %
Comprehensive Epilepsy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

MTHFR, UBE3A, PC, ARG1, BTD, ATPAF2, AUH, BCS1L, TWNK, C12orf65, ADSL, PAX6, AMACR, CPT2, PSAP, GNPTAB, GLB1, CC2D2A, PRODH, ATP6V0A2 , (...)

View the complete list with 427 more genes
Specificity
1 %
Genes
34 %
Methylenetetrahydrofolate Reductase (MTHFR), DNA Mutation Analysis.

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

MTHFR
Specificity
100 %
Genes
34 %
MTHFR A1298C C677T.

By IBC Instituto de Bioquimica Clinica SRL IBC Instituto de Bioquimica Clinica SRL in Argentina.

MTHFR
Specificity
100 %
Genes
34 %
MTHFR.

By Genelex in United States.

MTHFR
Specificity
100 %
Genes
34 %
MTHFR.

By Genelex in United States.

MTHFR
Specificity
100 %
Genes
34 %
YouScript Cardio.

By Genelex in United States.

F2, F5, MTHFR, CYP2C19, CYP2D6, VKORC1, SLCO1B1, CYP2C9, CYP3A4, CYP3A5
Specificity
10 %
Genes
34 %
Organic Acidemia/Aciduria & Cobalamin Deficiency Panel.

By Blueprint Genetics in Finland.

MTHFR, MCCC1, MCCC2, ACAT1, BCKDHA, BCKDHB, BCS1L, MMACHC, AMN, MTR, MTRR, DLD, ACSF3, HMGCL, IDH2, ACADSB, PCCB, PCCA, D2HGDH, MMADHC , (...)

View the complete list with 33 more genes
Specificity
2 %
Genes
34 %
Comprehensive Metabolism Panel.

By Blueprint Genetics in Finland.

HFE, MTHFR, MCCC1, MCCC2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2, ARG1, HLCS, BTD, ATP7B , (...)

View the complete list with 414 more genes
Specificity
1 %
Genes
34 %
Metabolic Epilepsy Panel.

By Blueprint Genetics in Finland.

MTHFR, ARG1, BTD, ADSL, PRODH, GNE, POLG, FH, DNM1L, ABAT, GAMT, GLDC, AMT, ETHE1, D2HGDH, SUOX, ALDH5A1, ALDH7A1, PTS, QDPR , (...)

View the complete list with 21 more genes
Specificity
3 %
Genes
34 %
Epileptic Encephalopathy Panel.

By Blueprint Genetics in Finland.

HTT, MTHFR, UBE3A, ADSL, CPT2, POLG, NDUFS4, MECP2, DNM1L, TTC19, NUBPL, ABAT, GAMT, STXBP1, SLC25A22, GLDC, AMT, ETHE1, D2HGDH, SLC9A6 , (...)

View the complete list with 108 more genes
Specificity
1 %
Genes
34 %
Comprehensive Epilepsy Panel.

By Blueprint Genetics in Finland.

HTT, MTHFR, UBE3A, ARG1, BTD, ADSL, AMACR, CPT2, PSAP, GLB1, PRODH, GNE, HSD17B10, POLG, NDUFS4, HSPD1, AFG3L2, FOXRED1, FH, MECP2 , (...)

View the complete list with 263 more genes
Specificity
1 %
Genes
34 %
Homocystinuria Core Panel.

By Blueprint Genetics in Finland.

MTHFR, MTR, MTRR, CBS
Specificity
25 %
Genes
34 %
Genetic Study of Hereditary Thrombophilia (11 genes).

By HeartGenetics, Genetics and Biotechnology, SA in Portugal.

F2, F5, MTHFR, GP1BA, SERPINE1, PROS1, F12, F13A1, SERPINC1, PROCR
Specificity
10 %
Genes
34 %
Pain Medication DNA Insight.

By Pathway Genomics in United States.

MTHFR, CYP2C19, CYP2D6, CYP2C9, CYP2B6, OPRM1
Specificity
17 %
Genes
34 %
Thrombophilia Panel.

By Genomic Research Center Shahid Beheshti University of Medical Sciences in Iran.

F2, F5, MTHFR, SERPINE1
Specificity
25 %
Genes
34 %
Thrombophilia, Sanger panel.

By Bioarray in Spain.

MTHFR
Specificity
100 %
Genes
34 %
Homocystinuria due to methylenetetrahydrofolate reductase deficiency.

By Bioarray in Spain.

MTHFR
Specificity
100 %
Genes
34 %
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
34 %
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
34 %
Genecept Assay™.

By Genomind Genomind, Inc in United States.

MTHFR, COMT, MC4R, CACNA1C, CYP2C19, CYP2D6, SLC6A4, BDNF, DRD2, ADRA2A, ANK3, CYP2C9, CYP1A2, CYP3A5, CYP2B6, OPRM1, HTR2C, GRIK1
Specificity
6 %
Genes
34 %
Comprehensive Pharmacogenomics (PGX) Panel.

By ApolloGen, Inc. in United States.

F5, MTHFR, COMT, CYP2C19, CYP2D6, VKORC1, SLCO1B1, CYP2C9, CYP3A4, CYP3A5, OPRM1, HTR2A
Specificity
9 %
Genes
34 %
MTHFR gene polymorphisms 677 T>C & 1298A>C mutations.

By Diagnostics Division Centre for DNA Fingerprinting and Diagnostics in India.

MTHFR
Specificity
100 %
Genes
34 %
Thrombophilia Panel.

By Center for Comprehensive Genetic Services Shahid Beheshti University of Medical Sciences in Iran.

F2, F5, MTHFR, SERPINE1
Specificity
25 %
Genes
34 %
Rxight Pharmacogenetics Program.

By MD Labs MD Labs in United States.

MTHFR, COMT, DPYD, CYP2C19, CYP2D6, DRD2, ADRA2A, TPMT, VKORC1, SLCO1B1, CYP2C9, CYP3A4, CYP3A5, CYP2B6, OPRM1, HTR2C, GRIK4, CYP2C8, ANKK1, UGT2B15
Specificity
5 %
Genes
34 %
HOMOCYSTINURIA.

By Laboratorio de Genetica Clinica SL in Spain.

MTHFR
Specificity
100 %
Genes
34 %
PREECLAMPSIA, ECLAMPSIA, HELLP SÍNDROME, ABORTION OF UNKNOWK CAUSE.

By Laboratorio de Genetica Clinica SL in Spain.

F2, F5, MTHFR
Specificity
34 %
Genes
34 %
MTHFR genotyping.

By Alpha Genomix Laboratories in United States.

MTHFR
Specificity
100 %
Genes
34 %
MTHFR Deficiency, Sequencing MTHFR Gene.

By Reference Laboratory Genetics in Spain.

MTHFR
Specificity
100 %
Genes
34 %
Neural Tube Defects and Related Disorders , Panel Massive Sequencing (NGS) 9 Genes.

By Reference Laboratory Genetics in Spain.

MTHFR, MMACHC, MTR, MTRR, CCL2, VANGL1, VANGL2, FUZ, MTHFD1
Specificity
23 %
Genes
67 %
Bleeding Disorders , Panel Massive Sequencing (NGS) 23 Genes.

By Reference Laboratory Genetics in Spain.

F2, F5, MTHFR, F11, VWF, F9, F8, ADAMTS13, GP1BA, FGA, FGB, FGG, ITGB3, ITGA2B, GP1BB, F7, GP9, F10, F12, F13A1 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
34 %
MTHFR 677 and MTHFR 1298.

By True Health Diagnostics in United States.

MTHFR
Specificity
100 %
Genes
34 %
152 Integrated Advantage NGS Solid Tumor Panel.

By Integrated Molecular Diagnostics Pathology, Inc. in United States.

BRCA1, BRCA2, MTHFR, VHL, APC, MLH1, PTEN, TP53, RB1, RET, RAF1, IDH2, TYMP, STAT3, FGFR3, AR, FANCC, BRAF, HRAS, KRAS , (...)

View the complete list with 132 more genes
Specificity
1 %
Genes
34 %
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
34 %
Homocystinuria: gene sequencing panel (RAPID testing).

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

MTHFR, MTR, MTRR, CBS
Specificity
25 %
Genes
34 %
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
34 %
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
34 %
Homocystinuria due to MTHFR deficiency: Full gene sequencing (Rapid testing).

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

MTHFR
Specificity
100 %
Genes
34 %
MTHFR polymorphism.

By Genomic Laboratory Semmelweis University in Hungary.

MTHFR
Specificity
100 %
Genes
34 %
Neural tube defect (sequence analysis of VANGL2 gene).

By CGC Genetics in Portugal.

VANGL2
Specificity
100 %
Genes
34 %
Neural tube defect (sequence analysis of VANGL2 gene).

By CGC Genetics in Portugal.

VANGL2
Specificity
100 %
Genes
34 %
Spina bifida.

By Praxis fuer Humangenetik Wien in Austria.

VANGL2
Specificity
100 %
Genes
34 %
Spina bifida.

By MedGene in Slovakia.

VANGL2
Specificity
100 %
Genes
34 %
VANGL2.

By Fulgent Genetics Fulgent Genetics in United States.

VANGL2
Specificity
100 %
Genes
34 %
VANGL2, full sequencing.

By Bioarray in Spain.

VANGL2
Specificity
100 %
Genes
34 %
TRIM36.

By Fulgent Genetics Fulgent Genetics in United States.

TRIM36
Specificity
100 %
Genes
34 %


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like PONTOCEREBELLAR HYPOPLASIA, TYPE 2C; PCH2C IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 3; ICF3 IMMUNODEFICIENCY 17; IMD17 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5; CMTX5

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