Vitamin E, Familial Isolated Deficiency Of; Ved

Description

Ataxia with vitamin E deficiency (AVED) is a neurodegenerative disease belonging to the inherited cerebellar ataxias. It is mainly characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and is associated with a marked deficiency in vitamin E.

Clinical Features

Top most frequent phenotypes and symptoms related to Vitamin E, Familial Isolated Deficiency Of; Ved

  • Scoliosis
  • Ataxia
  • Nystagmus
  • Muscle weakness
  • Milia
  • Myopathy
  • Visual impairment
  • Peripheral neuropathy
  • Dysarthria
  • Skeletal muscle atrophy
And another 33 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 Vitamin E, Familial Isolated Deficiency Of; Ved have a estimated prevalence of 0.33 per 100k worldwide.


Mendelian

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Vitamin E, Familial Isolated Deficiency Of; Ved 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
34 %
GeneAware Complete Panel Version 2 (Male).

By Baylor Miraca Genetics Laboratories in United States.

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

View the complete list with 129 more genes
Specificity
1 %
Genes
34 %
Ataxia with Vitamin E Deficiency (AVED) TTPA DNA Sequencing Test.

By Athena Diagnostics Inc in United States.

TTPA
Specificity
100 %
Genes
34 %
Ataxia, Supplemental Recessive Evaluation.

By Athena Diagnostics Inc in United States.

POLG, AFG3L2, MTPAP, COQ8A, FLVCR1, APTX, ATM, MRE11, SACS, TTPA, SETX, SYNE1, SYT14, ANO10, TDP1, SIL1, GRM1
Specificity
6 %
Genes
34 %
Ataxia, Complete Recessive Evaluation.

By Athena Diagnostics Inc in United States.

POLG, AFG3L2, MTPAP, COQ8A, FLVCR1, FXN, APTX, ATM, MRE11, SACS, TTPA, SETX, SYNE1, SYT14, ANO10, TDP1, SIL1, GRM1
Specificity
6 %
Genes
34 %
Ataxia, Comprehensive Evaluation.

By Athena Diagnostics Inc in United States.

PRKCG, POLG, AFG3L2, MTPAP, COQ8A, FLVCR1, FXN, APTX, ATXN1, ATM, MRE11, SACS, TTPA, PPP2R2B, ATXN2, ATXN3, ATXN10, ATXN7, CACNA1A, TBP , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
34 %
Ataxia Exome Panel.

By Genetic Services Laboratory University of Chicago in United States.

FMR1, TTR, UBE3A, AARS2, ABHD12, PC, UQCRQ, UQCRB, HLCS, BTD, ATP7B, ATPAF2, AUH, BCKDHA, BCKDHB, BCS1L, TWNK, C12orf65, ADSL, PRKCG , (...)

View the complete list with 460 more genes
Specificity
1 %
Genes
67 %
TTPA. Complete sequencing.

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

TTPA
Specificity
100 %
Genes
34 %
Hereditary ataxias (NGS panel for 44 genes).

By CGC Genetics in Portugal.

ABHD12, PRKCG, ELOVL4, POLG, AFG3L2, MTPAP, COQ8A, ABCB7, FXN, APTX, ATM, MRE11, MTTP, SACS, TTPA, CACNA1A, SETX, SYNE1, KCNA1, CACNB4 , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
34 %
Ataxia with isolated vitamin E deficiency (sequence analysis of TTPA gene).

By CGC Genetics in Portugal.

TTPA
Specificity
100 %
Genes
34 %
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
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
67 %
Vitamin E familial isolated deficiency of.

By Centogene AG - the Rare Disease Company in Germany.

TTPA
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
67 %
Ataxia and differential diagnoses Panel.

By CeGaT GmbH in Germany.

FMR1, AARS2, ABHD12, UQCRQ, BTD, ATP7B, AUH, TWNK, PRKCG, PAX6, INPP5E, AMACR, OPA1, WFS1, GLB1, CC2D2A, ELOVL4, TMEM67, NPHP1, CEP290 , (...)

View the complete list with 184 more genes
Specificity
1 %
Genes
34 %
Ataxia, autosomal recessive and X-linked Panel.

By CeGaT GmbH in Germany.

AFG3L2, MTPAP, COQ8A, SPG7, ABCB7, HEXA, HEXB, FXN, APTX, TPP1, WWOX, ATM, MRE11, SACS, TTPA, PLA2G6, SETX, SYNE1, SYT14, ANO10 , (...)

View the complete list with 26 more genes
Specificity
3 %
Genes
34 %
Spinocerebellar Ataxia.

By Asper Biogene Asper Biogene LLC in Estonia.

ABHD12, TWNK, PRKCG, WFS1, ELOVL4, AFG3L2, ACO2, COQ8A, DARS2, POLG2, FLVCR1, ABCB7, SLC9A6, PHYH, FXN, CYP27A1, APTX, TPP1, WWOX, NPC1 , (...)

View the complete list with 45 more genes
Specificity
2 %
Genes
34 %
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
34 %
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
34 %
Ataxia with Vitamin-E deficiency.

By Praxis fuer Humangenetik Wien in Austria.

TTPA
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 %
Ataxia with Vitamin-E deficiency.

By MedGene in Slovakia.

TTPA
Specificity
100 %
Genes
34 %
Ataxia with Vitamin E deficiency: TTPA gene mutation analysis (744delA).

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

TTPA
Specificity
100 %
Genes
34 %
Ataxia with vitamin E deficiency: TTPA gene sequence analysis.

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

TTPA
Specificity
100 %
Genes
34 %
Spinocerebellar ataxia.

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

PRKCG, POLG, AFG3L2, COQ9, PDSS2, PDSS1, COQ8A, COQ2, FXN, APTX, ATXN1, SACS, TTPA, PPP2R2B, ATXN2, ATXN3, ATXN10, ATXN7, CACNA1A, TBP , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
34 %
Ataxia.

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

PRKCG, POLG, AFG3L2, MTPAP, COQ8A, FXN, APTX, ATM, MRE11, MTTP, SACS, TTPA, CACNA1A, SETX, SYNE1, KCNA1, CACNB4, SLC1A3, SYT14, ANO10 , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
34 %
Hereditary Neuropathies: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

TTR, ATP7A, TWNK, PRKCG, POLG, GARS, KIF1B, MFN2, SPTLC2, COQ8A, REEP1, SPG7, ALDH3A2, PHYH, FXN, APTX, ELP1, GLA, PLP1, ATM , (...)

View the complete list with 70 more genes
Specificity
2 %
Genes
34 %
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
34 %
Hereditary Neuropathies: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

TTR, ATP7A, TWNK, PRKCG, POLG, GARS, KIF1B, MFN2, SPTLC2, COQ8A, REEP1, SPG7, ALDH3A2, PHYH, FXN, APTX, ELP1, GLA, PLP1, ATM , (...)

View the complete list with 70 more genes
Specificity
2 %
Genes
34 %
Inheritest NGS, Comprehensive.

By Integrated Genetics Westborough Integrated Genetics in United States.

FMR1, ACADM, AGL, ACADVL, ACAT1, ALDOB, ALPL, HLCS, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, SLC37A4, HSD17B4, CPS1, CPT2, GNPTAB , (...)

View the complete list with 120 more genes
Specificity
1 %
Genes
34 %
Ataxia with vitamin E deficiency.

By Integrated Genetics Westborough Integrated Genetics in United States.

TTPA
Specificity
100 %
Genes
34 %
Eye Disorders NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

ZNF513, AIPL1, USH1C, BEST1, INVS, SPATA7, COL2A1, PAX6, CHM, RB1, RP1, OPTN, OPA1, WFS1, CC2D2A, FOXC1, ELOVL4, PITX2, ABCA4, JAG1 , (...)

View the complete list with 118 more genes
Specificity
1 %
Genes
34 %
TTPA.

By Fulgent Genetics Fulgent Genetics in United States.

TTPA
Specificity
100 %
Genes
34 %
Retinal Dystrophy Panel.

By Blueprint Genetics in Finland.

ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, INVS, SPATA7, MMACHC, LRP5, COL2A1, PRKCG, CHM, PDZD7, RP1, INPP5E, OPA1, WFS1, CC2D2A, ELOVL4 , (...)

View the complete list with 240 more genes
Specificity
1 %
Genes
34 %
Ataxia Panel.

By Blueprint Genetics in Finland.

FMR1, ABHD12, TWNK, PRKCG, PAX6, INPP5E, OPA1, WFS1, CC2D2A, ELOVL4, TMEM67, ARL6, NPHP1, MKKS, CEP290, TTC8, TRIM32, POLG, NDUFS4, AFG3L2 , (...)

View the complete list with 137 more genes
Specificity
1 %
Genes
34 %
Retinitis Pigmentosa Panel.

By Blueprint Genetics in Finland.

ABHD12, ZNF513, AIPL1, USH1C, BEST1, SPATA7, PRKCG, CHM, RP1, INPP5E, ABCA4, MFRP, ARL6, CEP290, CLRN1, TTC8, USH2A, PRPH2, TULP1, SAG , (...)

View the complete list with 90 more genes
Specificity
1 %
Genes
34 %
Ataxia with vitamin E deficiency.

By Bioarray in Spain.

TTPA
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 %
ATAXIA WITH SELECTIVE VITAMIN E DEFICIENCY (FRIEDREICH-LIKE).

By Laboratorio de Genetica Clinica SL in Spain.

TTPA
Specificity
100 %
Genes
34 %
Ataxia Type Friedreich by Vitamin E Deficiency, Sequencing TTPA Gene.

By Reference Laboratory Genetics in Spain.

TTPA
Specificity
100 %
Genes
34 %
Ataxia Related Disorders , Panel Massive Sequencing (NGS) 35 Genes.

By Reference Laboratory Genetics in Spain.

PRKCG, POLG, AFG3L2, COQ9, PDSS2, PDSS1, COQ8A, COQ2, FXN, APTX, ATXN1, SACS, TTPA, PPP2R2B, ATXN2, ATXN3, ATXN10, ATXN7, CACNA1A, TBP , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
34 %
planTrue Extended.

By True Health Diagnostics in United States.

FMR1, ACADM, AGL, ACADVL, ALDOB, USH1C, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, GAA, HBB, GNPTAB, GLB1, NPHP1, CLRN1, PCDH15, DLD, SMPD1 , (...)

View the complete list with 61 more genes
Specificity
2 %
Genes
34 %
Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

HFE, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOB, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, TYR, SLC37A4, HSD17B4, CPT2 , (...)

View the complete list with 116 more genes
Specificity
1 %
Genes
34 %
Hypercholesterolemia.

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

LDLR, PCSK9, LDLRAP1, APOB
Specificity
25 %
Genes
34 %
Hypolipidemia and Hypocholesterolemia.

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

MTTP, PCSK9, APOB, ANGPTL3
Specificity
25 %
Genes
34 %
APOB (R3500Q/R3500W) Sequencing.

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

APOB
Specificity
100 %
Genes
34 %
APOB.

By Institute for Human Genetics University Clinic Freiburg in Germany.

APOB
Specificity
100 %
Genes
34 %
Familial hypercholesterolemia.

By Molecular Diagnostics Lab Nemours Alfred I. duPont Hospital for Children in United States.

LDLR, PCSK9, APOB
Specificity
34 %
Genes
34 %
FHNext.

By Ambry Genetics in United States.

LDLR, PCSK9, LDLRAP1, APOB, SLCO1B1
Specificity
20 %
Genes
34 %
Dyslipidemia NGS panel (29 genes), Sequence & CNV analysis.

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

CYP27A1, LDLR, LIPA, MTTP, APOE, ABCG5, ABCG8, CETP, SCARB1, APOA1, PCSK9, LDLRAP1, APOB, APOA5, LPL, LMF1, APOC2, GPIHBP1, ANGPTL3, LCAT , (...)

View the complete list with 9 more genes
Specificity
7 %
Genes
67 %
APOB. Complete sequencing.

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

APOB
Specificity
100 %
Genes
34 %
APOB. Detection of the mutations p.Arg3500Gln, p.Arg3500Trp and p.Arg3531Cys by sequencing.

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

APOB
Specificity
100 %
Genes
34 %
APOB. Detection of the mutations p.Arg3500Gln, p.Arg3500Trp and p.Arg3531Cys by sequencing.

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

APOB
Specificity
100 %
Genes
34 %
APOB. Complete sequencing.

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

APOB
Specificity
100 %
Genes
34 %
APOB, PCSK9, LDLRAP1, LDLR. NextGeneDx. Complete sequencing by NGS.

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

LDLR, PCSK9, LDLRAP1, APOB
Specificity
25 %
Genes
34 %
Congenital Diarrhea Seq Analysis.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

EPCAM, CFTR, PCSK1, MTTP, FLNA, APOB, NEUROG3, SI, TTC37, SKIV2L, SAR1B, LCT, SLC5A1, PNLIP, SLC26A3, MYO5B, STX3, SLC9A3, DGAT1, GUCY2C , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
34 %
Congenital Diarrhea Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

EPCAM, CFTR, PCSK1, MTTP, FLNA, APOB, NEUROG3, SI, TTC37, SKIV2L, SAR1B, LCT, SLC5A1, PNLIP, SLC26A3, MYO5B, STX3, SLC9A3, DGAT1, GUCY2C , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
34 %
Congenital Diarrhea Seq + Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

EPCAM, CFTR, PCSK1, MTTP, FLNA, APOB, NEUROG3, SI, TTC37, SKIV2L, SAR1B, LCT, SLC5A1, PNLIP, SLC26A3, MYO5B, STX3, SLC9A3, DGAT1, GUCY2C , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
34 %
Hypobetalipoproteinemia, familial (sequence analysis of APOB gene).

By CGC Genetics in Portugal.

APOB
Specificity
100 %
Genes
34 %
Hypercholesterolemia (frequent mutations of APOB gene).

By CGC Genetics in Portugal.

APOB
Specificity
100 %
Genes
34 %
Hypercholesterolemia, familial (NGS panel for 15 genes).

By CGC Genetics in Portugal.

APTX, LDLR, LIPA, GHR, ABCG5, ABCG8, PCSK9, LDLRAP1, APOB, ABCA1, APOA2, PPP1R17, EPHX2, ITIH4, LRP6
Specificity
7 %
Genes
34 %
Hypercholesterolemia, familial (NGS panel for 3 genes).

By CGC Genetics in Portugal.

LDLR, PCSK9, APOB
Specificity
34 %
Genes
34 %
Hypercholesterolemia, autosomal dominant, type B.

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

APOB
Specificity
100 %
Genes
34 %
Familial hypercholesterolemia.

By Unit for Cardiac and Cardiavasular Genetics Oslo University Hospital HF - Ullevaal in Norway.

LDLR, PCSK9, LDLRAP1, APOB
Specificity
25 %
Genes
34 %
Familial Hypercholesterolemia Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

LDLR, PCSK9, LDLRAP1, APOB
Specificity
25 %
Genes
34 %
Familial Hypercholesterolemia and Hypobetalipoproteinemia via the APOB Gene.

By PreventionGenetics PreventionGenetics in United States.

APOB
Specificity
100 %
Genes
34 %
Familial Hypercholesterolemia Type B.

By MGZ Medical Genetics Center in Germany.

LDLR, APOB
Specificity
50 %
Genes
34 %
Familial Hypercholesterolemia Type B.

By Bioscientia GmbH Center for Human Genetics in Germany.

APOB
Specificity
100 %
Genes
34 %
Hypobetalipoproteinemia type 1.

By Centogene AG - the Rare Disease Company in Germany.

APOB
Specificity
100 %
Genes
34 %
Hypobetalipoproteinemia type 1.

By Centogene AG - the Rare Disease Company in Germany.

APOB
Specificity
100 %
Genes
34 %
Hypercholesterolemia type B autosomal dominant.

By Centogene AG - the Rare Disease Company in Germany.

APOB
Specificity
100 %
Genes
34 %
Familial Hypercholesterolemia Type B.

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

APOB
Specificity
100 %
Genes
34 %
Hypercholesterolemia, familial, APOB.

By GGA - Galil Genetic Analysis in Israel.

APOB
Specificity
100 %
Genes
34 %
Familial Hypercholesterolemia Type B (APOB, FDB).

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

APOB
Specificity
100 %
Genes
34 %
Familial Hypercholesterolemia.

By Asper Biogene Asper Biogene LLC in Estonia.

LDLR, PCSK9, LDLRAP1, APOB
Specificity
25 %
Genes
34 %
Familial hypercholesterolemia.

By Health in Code in Spain.

LDLR, APOB
Specificity
50 %
Genes
34 %
Inherited Cardiovascular Diseases and Sudden Death Panel.

By Health in Code in Spain.

HFE, TTR, AARS2, ACAD9, ACADM, AGL, ACADVL, ATPAF2, GAA, COL1A1, COL1A2, COL3A1, PSEN1, ELN, EYA4, GNPTAB, GLB1, PITX2, JAG1, DSP , (...)

View the complete list with 193 more genes
Specificity
1 %
Genes
34 %
Cardiovascular Diseases_General Panel.

By Health in Code in Spain.

HFE, TTR, AARS2, ACAD9, AGL, ACADVL, ATP5F1E, ATP7A, ATPAF2, B4GALT7, GAA, HNF1A, NEUROD1, PPARG, COL1A1, COL1A2, COL3A1, ELAC2, PSEN1, HNF1B , (...)

View the complete list with 360 more genes
Specificity
1 %
Genes
67 %
Familial hypercholesterolemia Basic Panel.

By Health in Code in Spain.

LDLR, APOE, PCSK9, LDLRAP1, APOB, SLCO1B1
Specificity
17 %
Genes
34 %
Dyslipidemias / Early atherosclerosis.

By Health in Code in Spain.

HNF1A, NEUROD1, PPARG, HNF1B, CPT2, WFS1, PCDH15, GCK, GPD1, CAVIN1, PNPLA2, MEF2A, COQ2, PYGM, LDLR, LEP, LIPA, MTTP, LMNA, APOE , (...)

View the complete list with 64 more genes
Specificity
3 %
Genes
67 %
Hypolipidemias.

By Health in Code in Spain.

MTTP, APOA1, PCSK9, APOB, ANGPTL3, ABCG1, LCAT, ABCA1, APOC3, MYLIP, SAR1B
Specificity
19 %
Genes
67 %
Familial hypercholesterolemia Extended Panel.

By Health in Code in Spain.

CPT2, COQ2, PYGM, LDLR, LIPA, APOE, RYR1, ABCB1, AMPD1, ABCG5, ABCG8, CYP2D6, NPC1L1, PCSK9, LDLRAP1, APOB, SLCO1B1, CYP3A4, CYP3A5, SLC22A8 , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
34 %
Familial Hypercholesterolaemia Genetic Screen.

By Cardiovascular Genetics Laboratory PathWest Laboratory Medicine WA in Australia.

LDLR, LIPA, APOE, ABCG5, ABCG8, PCSK9, LDLRAP1, APOB, STAP1
Specificity
12 %
Genes
34 %
Familial hypercholesterolemia (APOB, LDLR, PCSK9).

By Center for Human Genetics Cliniques Universitaires Saint Luc in Belgium.

LDLR, PCSK9, APOB
Specificity
34 %
Genes
34 %
Hypercholesterolemia, due to ligand-defective apo B.

By Praxis fuer Humangenetik Wien in Austria.

APOB
Specificity
100 %
Genes
34 %
Hypercholesterolemia, due to ligand-defective apo B.

By MedGene in Slovakia.

APOB
Specificity
100 %
Genes
34 %
Invitae Familial Hypercholesterolemia Panel.

By Invitae in United States.

LDLR, PCSK9, LDLRAP1, APOB
Specificity
25 %
Genes
34 %
APOB: APOB gene mutation analysis (p.Arg3500Gln).

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

APOB
Specificity
100 %
Genes
34 %
APOB: APOB gene mutations analysis (p.Arg3500Gln, p.Arg3500Trp, p.His3543Tyr).

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

APOB
Specificity
100 %
Genes
34 %
APOB: APOB gene sequence analysis.

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

APOB
Specificity
100 %
Genes
34 %
Hypercholesterolemia.

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

LDLR, PCSK9, LDLRAP1, APOB
Specificity
25 %
Genes
34 %
Hypobetalipoproteinemia.

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

MTTP, PCSK9, APOB, ANGPTL3
Specificity
25 %
Genes
34 %
Early-Onset Coronary Artery Disease/Familial Hypercholesterolemia Full Gene Sequencing Panel.

By Integrated Genetics Westborough Integrated Genetics in United States.

LDLR, PCSK9, APOB, ABCA1, APOA2, APOC3, PON2
Specificity
15 %
Genes
34 %
Familial Hypercholesterolemia Profile.

By Integrated Genetics Westborough Integrated Genetics in United States.

LDLR, PCSK9, APOB
Specificity
34 %
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 %
APOB.

By Fulgent Genetics Fulgent Genetics in United States.

APOB
Specificity
100 %
Genes
34 %
Familial Hypercholesterolemia (FH) Panel.

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

LDLR, PCSK9, APOB
Specificity
34 %
Genes
34 %
Familial Hypercholesterolemia (FH), Single Site.

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

LDLR, PCSK9, APOB
Specificity
34 %
Genes
34 %
Hyperlipidemia Core Panel.

By Blueprint Genetics in Finland.

LDLR, PCSK9, LDLRAP1, APOB
Specificity
25 %
Genes
34 %
Hyperlipidemia Panel.

By Blueprint Genetics in Finland.

ALMS1, LDLR, LIPA, APOE, ABCG5, ABCG8, APOA1, PCSK9, LDLRAP1, APOB, APOA5, LPL, LMF1, APOC2, GPIHBP1, ABCA1, APOC3, CREB3L3
Specificity
12 %
Genes
67 %
Genetic Study of Familial Hypercholesterolemia.

By HeartGenetics, Genetics and Biotechnology, SA in Portugal.

LDLR, APOE, PCSK9, LDLRAP1, APOB, STAP1
Specificity
17 %
Genes
34 %
Familial hypobetalipoproteinemia.

By Bioarray in Spain.

APOB
Specificity
100 %
Genes
34 %
Familial hypercholesterolemia type B.

By Bioarray in Spain.

APOB
Specificity
100 %
Genes
34 %
Familial Hypercholesterolemia NGS and Deletion/Duplication Panel.

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

LDLR, PCSK9, LDLRAP1, APOB
Specificity
25 %
Genes
34 %
Familial Hypercholesterolemia, Autosomal Dominant NGS Panel.

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

LDLR, PCSK9, APOB
Specificity
34 %
Genes
34 %
APOB Gene Sequencing and Deletion/Duplication Analysis.

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

APOB
Specificity
100 %
Genes
34 %
iGene Cardiac Panel.

By ApolloGen, Inc. in United States.

COL3A1, DSP, GLA, LDLR, LMNA, TTN, MYH7, MYBPC3, KCNH2, SCN5A, KCNQ1, PKP2, RYR2, ACTC1, TNNI3, PRKAG2, DSG2, TPM1, TNNT2, MYL3 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
34 %
Familial Hypercholesterolemia.

By Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease Montreal Heart Institute in Canada.

LDLR, PCSK9, LDLRAP1, APOB
Specificity
25 %
Genes
34 %
Familial Hypercholesterolemia.

By Color Genomics, Inc. Color Genomics, Inc. in United States.

LDLR, PCSK9, APOB
Specificity
34 %
Genes
34 %
FAMILIAL HYPERCHOLESTEROLEMIA.

By Laboratorio de Genetica Clinica SL in Spain.

LDLR, PCSK9, APOB
Specificity
34 %
Genes
34 %
FAMILIAL HYPOBETALIPOPROTEINEMIA.

By Laboratorio de Genetica Clinica SL in Spain.

MTTP, PCSK9, APOB, ANGPTL3
Specificity
25 %
Genes
34 %
ABETALIPOPROTEINEMIA.

By Laboratorio de Genetica Clinica SL in Spain.

MTTP, APOB
Specificity
50 %
Genes
34 %
Apolipoprotein B Deficiency, Sequencing APOB Gene.

By Reference Laboratory Genetics in Spain.

APOB
Specificity
100 %
Genes
34 %
Apolipoprotein B Deficiency , Mutations (p.Arg3500Gln,p.Arg3500Trp,p.His3543Tyr) APOB Gene.

By Reference Laboratory Genetics in Spain.

APOB
Specificity
100 %
Genes
34 %
Apolipoprotein B Deficiency, Mutation (p.Arg3500Gln) APOB Gene.

By Reference Laboratory Genetics in Spain.

APOB
Specificity
100 %
Genes
34 %
Familial Hypercholesterolemia , Panel Massive Sequencing (NGS) 4 Genes.

By Reference Laboratory Genetics in Spain.

LDLR, PCSK9, LDLRAP1, APOB
Specificity
25 %
Genes
34 %
Familial Hypobetalipoproteinemia , Panel Massive Sequencing (NGS) 4 Genes.

By Reference Laboratory Genetics in Spain.

MTTP, PCSK9, APOB, ANGPTL3
Specificity
25 %
Genes
34 %
Hypercholesterolemia, autosomal dominant, type B.

By Labor Dr. Wisplinghoff in Germany.

APOB
Specificity
100 %
Genes
34 %
Phosphorus Familial Hypercholesterolemia Panel.

By Phosphorus Diagnostics LLC in United States.

LDLR, PCSK9, LDLRAP1, APOB
Specificity
25 %
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 %
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
67 %
High HDL.

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

CETP, SCARB1, APOA1
Specificity
34 %
Genes
34 %
Low HDL Panel.

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

SCARB1, APOA1, ABCG1, LCAT, ABCA1
Specificity
20 %
Genes
34 %
APOA1.

By Institute for Human Genetics University Clinic Freiburg in Germany.

APOA1
Specificity
100 %
Genes
34 %
Amyloidosis due to deposits of apolipoprotein AI.

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

APOA1
Specificity
100 %
Genes
34 %
Amyloidosis (sequence analysis of APOA1 gene).

By CGC Genetics in Portugal.

APOA1
Specificity
100 %
Genes
34 %
Amyloidosis (sequence analysis of APOA1 gene).

By CGC Genetics in Portugal.

APOA1
Specificity
100 %
Genes
34 %
Hereditary amyloidosis (NGS panel of 19 genes).

By CGC Genetics in Portugal.

TTR, APP, TGFBI, RET, GSN, NLRP3, MEFV, PRNP, APOA1, FGA, TNFRSF1A, F10, TACSTD2, APOA2, B2M, CST3, LYZ, IL31RA, OSMR
Specificity
6 %
Genes
34 %
Hereditary amyloidosis (NGS panel of 19 genes).

By CGC Genetics in Portugal.

TTR, APP, TGFBI, RET, GSN, NLRP3, MEFV, PRNP, APOA1, FGA, TNFRSF1A, F10, TACSTD2, APOA2, B2M, CST3, LYZ, IL31RA, OSMR
Specificity
6 %
Genes
34 %
AMYLOIDOSIS, FAMILIAL VISCERAL.

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

APOA1, FGA, APOA2, LYZ
Specificity
25 %
Genes
34 %
Familial High Density Lipoprotein Deficiency.

By Unit for Cardiac and Cardiavasular Genetics Oslo University Hospital HF - Ullevaal in Norway.

APOA1, ABCA1
Specificity
50 %
Genes
34 %
Familial Amyloidosis via APOA1 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

APOA1
Specificity
100 %
Genes
34 %
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
34 %
Hereditary Amyloidosis, gene sequencing panel.

By Molecular Diagnostics Laboratory University Health Network in Canada.

TTR, GSN, APOA1, FGA, APOA2, B2M, LYZ
Specificity
15 %
Genes
34 %
Custom gene seqeuncing panel.

By Molecular Diagnostics Laboratory University Health Network in Canada.

TTR, VHL, EPCAM, MSH2, PMS2, MSH6, MLH1, PTEN, MC1R, SDHC, FH, SDHB, GSN, SDHA, TSC2, TSC1, CDK4, CDKN2A, SDHD, FLCN , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
34 %
Single gene testing APOA1.

By CeGaT GmbH in Germany.

APOA1
Specificity
100 %
Genes
34 %
APOA1 Gene, Full Gene Analysis.

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

APOA1
Specificity
100 %
Genes
34 %
Familial Cardiomyopathy Full Gene Sequencing Panel.

By Integrated Genetics Westborough Integrated Genetics in United States.

TTR, EYA4, DSP, DNAJC19, TAZ, ALMS1, GLA, FKTN, LMNA, CAV3, DES, MYH7, LDB3, MYBPC3, TMEM43, EMD, TCAP, SGCD, SCN5A, LAMP2 , (...)

View the complete list with 26 more genes
Specificity
3 %
Genes
34 %
APOA1.

By Fulgent Genetics Fulgent Genetics in United States.

APOA1
Specificity
100 %
Genes
34 %
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
34 %
Cardiomyopathy Panel.

By Blueprint Genetics in Finland.

HFE, TTR, AARS2, ACAD9, AGL, ACADVL, GAA, ELAC2, CPT2, GLB1, TRIM32, DSP, SLC25A4, FOXRED1, NDUFAF2, CRYAB, HADHA, RAF1, VCP, MTO1 , (...)

View the complete list with 135 more genes
Specificity
1 %
Genes
34 %
Comprehensive Cardiology Panel.

By Blueprint Genetics in Finland.

HFE, TTR, AARS2, ACAD9, AGL, ACADVL, GAA, ELAC2, CPT2, GLB1, TRIM32, DSP, SLC25A4, FOXRED1, NDUFAF2, CRYAB, HADHA, RAF1, VCP, MTO1 , (...)

View the complete list with 165 more genes
Specificity
1 %
Genes
34 %
Dilated Cardiomyopathy (DCM) Panel.

By Blueprint Genetics in Finland.

TTR, GLB1, DSP, RAF1, PCCB, PCCA, TAZ, MLYCD, GBE1, ETFB, ETFA, ETFDH, ALMS1, DOLK, DMD, FKTN, LMNA, DYSF, TTN, DES , (...)

View the complete list with 50 more genes
Specificity
2 %
Genes
34 %
Hypertrophic Cardiomyopathy (HCM) Panel.

By Blueprint Genetics in Finland.

TTR, ACAD9, AGL, ACADVL, GAA, ELAC2, SLC25A4, NDUFAF2, RAF1, AGK, COX15, FXN, BRAF, GLA, HRAS, SOS1, CBL, MYH7, FLNC, BAG3 , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
34 %
AMYLOIDOSIS.

By Laboratorio de Genetica Clinica SL in Spain.

TTR, APOA1, FGA, APOA2, LYZ
Specificity
20 %
Genes
34 %
Visceral Hereditary Amyloidosis, Sequencing APOA1 Gene.

By Reference Laboratory Genetics in Spain.

APOA1
Specificity
100 %
Genes
34 %
Familial Amyloidosis and Related Disorders , Panel Massive Sequencing (NGS) 8 Genes.

By Reference Laboratory Genetics in Spain.

TTR, GSN, APOA1, FGA, B2M, LYZ, IL31RA, OSMR
Specificity
13 %
Genes
34 %

Alternate names

Vitamin E, Familial Isolated Deficiency Of; Ved Is also known as ataxia, friedreich-like, with selective vitamin e deficiency;aved, friedreich-like ataxia;aved; ataxia with isolated vitamin e deficiency; familial isolated vitamin e deficiency; friedreich-like ataxia; isolated vitamin e deficiency.


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