Multiple Enchondromatosis, Maffucci Type

Description

Enchondromas are common benign cartilage tumors of bone. They can occur as solitary lesions or as multiple lesions in enchondromatosis. When hemangiomata are associated, the condition is known as Maffucci syndrome. Clinical problems caused by enchondromas include skeletal deformity and the potential for malignant change to osteosarcoma (Schwartz et al., 1987). Classification of the EnchondromatosesIn their classification of the enchondromatoses, Spranger et al. (1978) called Ollier disease (OMIM ) and Maffucci syndrome types I and II enchondromatosis, respectively; metachondromatosis (OMIM ), type III; and spondyloenchondrodysplasia (OMIM ), type IV; enchondromatosis with irregular vertebral lesions, type V; and generalized enchondromatosis, type VI. Halal and Azouz (1991) added 3 tentative categories to the 6 in the classification of Spranger et al. (1978).Pansuriya et al. (2010) suggested a new classification of enchondromatosis (multiple enchondromas).

Clinical Features

Top most frequent phenotypes and symptoms related to Multiple Enchondromatosis, Maffucci Type

  • Short stature
  • Scoliosis
  • Growth delay
  • Dysphagia
  • Recurrent fractures
  • Subcutaneous nodule
  • Bone pain
  • Osteolysis
  • Hemangioma
  • Cranial nerve paralysis
And another 17 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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Multiple Enchondromatosis, Maffucci Type Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MyeloidDx by NGS.

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

PTEN, RUNX1, TP53, WT1, IDH2, BCOR, BRAF, HRAS, KRAS, NRAS, PTPN11, RAD21, CBL, SMC3, SMC1A, CDKN2A, GATA2, CEBPA, MPL, ATRX , (...)

View the complete list with 33 more genes
Specificity
4 %
Genes
100 %
MyeloidDx by NGS.

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

PTEN, RUNX1, TP53, WT1, IDH2, BCOR, BRAF, HRAS, KRAS, NRAS, PTPN11, RAD21, CBL, SMC3, SMC1A, CDKN2A, GATA2, CEBPA, MPL, ATRX , (...)

View the complete list with 33 more genes
Specificity
4 %
Genes
100 %
Acute myeloid leukemia (AML, sequence analysis of exon 4 of IDH1 gene).

By CGC Genetics in Portugal.

IDH1
Specificity
100 %
Genes
50 %
Glioma (sequence analysis of exon 4 of IDH1 gene).

By CGC Genetics in Portugal.

IDH1
Specificity
100 %
Genes
50 %
Lysosomal and peroxisomal diseases (NGS panel of 109 genes).

By CGC Genetics in Portugal.

GAA, PPARG, AMACR, HSD17B4, CLCN7, PSAP, GNPTAB, GLB1, ATP6V0A2, SMPD1, HPS1, DNM1L, BLOC1S3, HPS6, SCP2, CTSD, AP3B1, GRN, AGPS, LMBRD1 , (...)

View the complete list with 88 more genes
Specificity
1 %
Genes
50 %
Glioma (methilation analysis of MGMT gene promoter and frequent mutations on IDH1 e IDH2 genes).

By CGC Genetics in Portugal.

IDH2, MGMT, IDH1
Specificity
67 %
Genes
100 %
Lysosomal and peroxisomal diseases (NGS panel of 109 genes).

By CGC Genetics in Portugal.

GAA, PPARG, AMACR, HSD17B4, CLCN7, PSAP, GNPTAB, GLB1, ATP6V0A2, SMPD1, HPS1, DNM1L, BLOC1S3, HPS6, SCP2, CTSD, AP3B1, GRN, AGPS, LMBRD1 , (...)

View the complete list with 88 more genes
Specificity
1 %
Genes
50 %
Glioma (methilation analysis of MGMT gene promoter and frequent mutations on IDH1 e IDH2 genes).

By CGC Genetics in Portugal.

IDH2, MGMT, IDH1
Specificity
67 %
Genes
100 %
IDH1 and IDH2 , targeted mutation testing.

By Molecular Diagnostics Laboratory University Health Network in Canada.

IDH2, IDH1
Specificity
100 %
Genes
100 %
Mental Retardation and Dysmorphology - panels.

By MGZ Medical Genetics Center in Germany.

FMR1, UBE3A, PTEN, RECQL4, AGL, ATP7A, GAA, LRP5, SLC37A4, GNPTAB, GLB1, HSD17B10, OCRL, JAG1, NDP, HPRT1, NHS, RAF1, SMPD1, MECP2 , (...)

View the complete list with 323 more genes
Specificity
1 %
Genes
100 %
Syndromal Diseases - panels.

By MGZ Medical Genetics Center in Germany.

FMR1, UBE3A, PTEN, RECQL4, AGL, ATP7A, GAA, LRP5, SLC37A4, GNPTAB, GLB1, HSD17B10, OCRL, JAG1, NDP, HPRT1, NHS, RAF1, SMPD1, MECP2 , (...)

View the complete list with 322 more genes
Specificity
1 %
Genes
100 %
Myeloid Tumor Panel.

By Centogene AG - the Rare Disease Company in Germany.

PTEN, RUNX1, TP53, WT1, IDH2, BCOR, BRAF, HRAS, KRAS, NRAS, PTPN11, RAD21, CBL, SMC3, SMC1A, CDKN2A, GATA2, CEBPA, MPL, ATRX , (...)

View the complete list with 34 more genes
Specificity
4 %
Genes
100 %
Cancer Hotspot Panel.

By Centogene AG - the Rare Disease Company in Germany.

BRCA1, BRCA2, VHL, APC, MLH1, PTEN, TP53, HNF1A, RB1, RET, GNAT2, IDH2, FGFR3, AR, BRAF, HRAS, KRAS, NRAS, PTPN11, FGFR2 , (...)

View the complete list with 68 more genes
Specificity
3 %
Genes
100 %
Solid Tumor Panel.

By Centogene AG - the Rare Disease Company in Germany.

VHL, APC, MLH1, PTEN, TP53, RB1, RET, IDH2, FGFR3, AR, BRAF, HRAS, KRAS, MAP2K1, NRAS, PTPN11, FGFR2, TSC1, ALK, ATM , (...)

View the complete list with 42 more genes
Specificity
4 %
Genes
100 %
Glioma, susceptibility to, somatic.

By Centogene AG - the Rare Disease Company in Germany.

IDH1
Specificity
100 %
Genes
50 %
IDH1, selective sequencing of exon 4.

By Centogene AG - the Rare Disease Company in Germany.

IDH1
Specificity
100 %
Genes
50 %
Nuclear encoded Mitochondriopathies Panel.

By CeGaT GmbH in Germany.

MCCC1, MCCC2, AARS2, ACAD9, ACADM, ACADS, ACADVL, ACAT1, YARS2, FBP1, PC, UQCRQ, UQCRB, HLCS, ATP5F1E, BTD, ATPAF2, AUH, BCKDHA, BCKDHB , (...)

View the complete list with 263 more genes
Specificity
1 %
Genes
100 %
IDH1 and IDH2 Exon 4 Mutation Detection.

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

IDH2, IDH1
Specificity
100 %
Genes
100 %
IDH1 Exon 4 Mutation Detection.

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

IDH1
Specificity
100 %
Genes
50 %
NGS HemeOnc Panel.

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

RUNX1, TP53, WT1, IDH2, KRAS, NRAS, PTPN11, CBL, GATA2, CEBPA, MPL, PHF6, SETBP1, DNMT3A, EZH2, KIT, ASXL1, SH2B3, FLT3, NPM1 , (...)

View the complete list with 9 more genes
Specificity
7 %
Genes
100 %
AML post-FLT3 Comprehensive Mutation Panel.

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

IDH2, CEBPA, DNMT3A, NPM1, IDH1
Specificity
40 %
Genes
100 %
TCA Cycle NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

PC, FH, ACO2, IDH3B, PDHB, PCK2, IDH2, SUCLA2, PDP1, PDHA1, SUCLG1, DLAT, PDHX, IDH1, MDH1
Specificity
14 %
Genes
100 %
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
100 %
IDH1.

By Fulgent Genetics Fulgent Genetics in United States.

IDH1
Specificity
100 %
Genes
50 %
Onco microarray for MDS/AML.

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

RUNX1, TP53, WT1, IDH2, KRAS, NRAS, PTPN11, CBL, ALK, GATA2, NF1, FUS, GATA1, DNMT3A, EZH2, TFG, TERT, KMT2A, KIT, ASXL1 , (...)

View the complete list with 40 more genes
Specificity
4 %
Genes
100 %
IDH1 and IDH2 Mutations by Sanger Sequencing.

By Cancer Genetics, Inc. Cancer Genetics, Inc. in United States.

IDH2, IDH1
Specificity
100 %
Genes
100 %
Focus::Myeloid™ NGS Panel.

By Cancer Genetics, Inc. Cancer Genetics, Inc. in United States.

PTEN, RUNX1, TP53, WT1, IDH2, BCOR, BRAF, HRAS, KRAS, NRAS, PTPN11, RAD21, CBL, SMC3, SMC1A, CDKN2A, GATA2, CEBPA, MPL, ATRX , (...)

View the complete list with 34 more genes
Specificity
4 %
Genes
100 %
Focus::Myeloid™ NGS Panel.

By Cancer Genetics, Inc. Cancer Genetics, Inc. in United States.

PTEN, RUNX1, TP53, WT1, IDH2, BCOR, BRAF, HRAS, KRAS, NRAS, PTPN11, RAD21, CBL, SMC3, SMC1A, GATA2, CEBPA, MPL, ATRX, PHF6 , (...)

View the complete list with 30 more genes
Specificity
4 %
Genes
100 %
Focus::MDS™ NGS Panel.

By Cancer Genetics, Inc. Cancer Genetics, Inc. in United States.

RUNX1, TP53, WT1, IDH2, BCOR, BRAF, KRAS, NRAS, PTPN11, CBL, CEBPA, SETBP1, DNMT3A, EZH2, KDM6A, KMT2A, ASXL1, FLT3, JAK2, ZRSR2 , (...)

View the complete list with 7 more genes
Specificity
8 %
Genes
100 %
Focus::MPN™ NGS Panel.

By Cancer Genetics, Inc. Cancer Genetics, Inc. in United States.

RUNX1, TP53, IDH2, BCOR, CBL, CEBPA, MPL, SETBP1, GATA1, DNMT3A, EZH2, KIT, ASXL1, JAK3, CALR, FLT3, JAK2, ABL1, U2AF1, TET2 , (...)

View the complete list with 5 more genes
Specificity
8 %
Genes
100 %
Focus::AML™ NGS Panel.

By Cancer Genetics, Inc. Cancer Genetics, Inc. in United States.

RUNX1, TP53, WT1, IDH2, BCOR, BRAF, KRAS, NRAS, PTPN11, CBL, GATA2, CEBPA, MPL, PHF6, SETBP1, GATA1, DNMT3A, EZH2, KDM6A, KMT2A , (...)

View the complete list with 17 more genes
Specificity
6 %
Genes
100 %
Focus::Oncomine™ NGS Panel.

By Cancer Genetics, Inc. Cancer Genetics, Inc. in United States.

RET, RAF1, IDH2, FGFR3, AR, BRAF, HRAS, KRAS, MAP2K1, NRAS, FGFR2, MAP2K2, ALK, CDK4, MET, CTNNB1, MTOR, ERBB3, KIT, JAK3 , (...)

View the complete list with 15 more genes
Specificity
6 %
Genes
100 %
Somatic Overgrowth Gene Set.

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

PTEN, IDH2, TSC2, TSC1, RASA1, MTOR, PIK3CA, AKT2, GNAQ, IDH1, GNA11, PIK3R2, AKT3, AKT1, SMO
Specificity
14 %
Genes
100 %
Solid Tumor Gene Set.

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

BRCA1, BRCA2, VHL, APC, MLH1, PTEN, TP53, FOXL2, PPARG, WT1, RB1, RET, RAF1, IDH2, FGFR3, AR, BRAF, CREBBP, HRAS, KRAS , (...)

View the complete list with 102 more genes
Specificity
2 %
Genes
100 %
Hematopoietic Disorders Gene Set.

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

RUNX1, TP53, IDH2, BCOR, BRAF, CREBBP, KRAS, NRAS, PTPN11, CBL, NSD1, ATM, GATA2, PAX5, CEBPA, MPL, NF1, SETBP1, GATA3, GATA1 , (...)

View the complete list with 34 more genes
Specificity
4 %
Genes
100 %
CNS Tumor Gene Set.

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

PTEN, TP53, WT1, RB1, SHH, IDH2, BRAF, KRAS, FGFR2, PTCH1, NF2, SUFU, CDKN2A, MET, NTRK1, NF1, FGFR1, SETD2, ATRX, MED12 , (...)

View the complete list with 28 more genes
Specificity
5 %
Genes
100 %
Maffucci syndrome Gene Set.

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

IDH2, IDH1
Specificity
100 %
Genes
100 %
Breast Tumors Gene Set.

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

BRCA1, BRCA2, PTEN, RUNX1, TP53, RB1, RET, IDH2, BRAF, HRAS, KRAS, MAP2K1, FGFR2, MAP2K2, ATM, PALB2, CDH1, STK11, CDK4, CDKN2A , (...)

View the complete list with 22 more genes
Specificity
5 %
Genes
100 %
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
100 %
Guardant360.

By Guardant Health in United States.

BRCA1, BRCA2, VHL, APC, MLH1, PTEN, TP53, HNF1A, RB1, RET, RAF1, IDH2, FGFR3, AR, BRAF, HRAS, KRAS, MAP2K1, NRAS, PTPN11 , (...)

View the complete list with 53 more genes
Specificity
3 %
Genes
100 %
Comprehensive Panel for Individualized Cancer Threatment.

By GeneKor MSA in Greece.

VHL, APC, PTEN, TP53, HNF1A, RB1, RET, IDH2, FGFR3, BRAF, HRAS, KRAS, MAP2K1, NRAS, PTPN11, FGFR2, ALK, ATM, CDH1, CDKN2A , (...)

View the complete list with 32 more genes
Specificity
4 %
Genes
100 %
Cancer Hotspot Analysis.

By Advanced Technology Laboratory Spectrum Health in United States.

VHL, APC, MLH1, PTEN, TP53, HNF1A, RB1, RET, IDH2, FGFR3, BRAF, HRAS, KRAS, NRAS, PTPN11, FGFR2, ALK, ATM, CDH1, STK11 , (...)

View the complete list with 30 more genes
Specificity
4 %
Genes
100 %
Circulo Hematological.

By Circulogene Theranostics in United States.

IDH1
Specificity
100 %
Genes
50 %
Caris MI TumorSeek 592-Gene NGS Panel.

By Caris Life Sciences in United States.

BRCA1, BRCA2, VHL, APC, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, FOXL2, HNF1A, PPARG, COL1A1, WT1, RB1, SDHAF2 , (...)

View the complete list with 571 more genes
Specificity
1 %
Genes
100 %
OmniSeq Comprehensive.

By OmniSeq, Inc. in United States.

BRCA1, BRCA2, VHL, APC, MSH2, MLH1, PTEN, TP53, FOXL2, HNF1A, PPARG, WT1, RB1, RET, RAF1, IDH2, SOX2, STAT3, PNP, FGFR3 , (...)

View the complete list with 124 more genes
Specificity
2 %
Genes
100 %
MULTIPLE ENCHONDROMATOSIS (OLLIER SYNDROME).

By Laboratorio de Genetica Clinica SL in Spain.

IDH2, PTH1R, IDH1
Specificity
67 %
Genes
100 %
Solid Tumor Targeted Mutation and Fusion Panel.

By Providence Regional Laboratories Providence Health and Services in United States.

PPARG, RET, RAF1, IDH2, FGFR3, AR, BRAF, HRAS, KRAS, MAP2K1, NRAS, FGFR2, MAP2K2, ALK, CDK4, MET, NTRK1, FGFR1, CTNNB1, MTOR , (...)

View the complete list with 30 more genes
Specificity
4 %
Genes
100 %
Glioma, Sequencing IDH1 Gene.

By Reference Laboratory Genetics in Spain.

IDH1
Specificity
100 %
Genes
50 %
Acute Myeloid Leukemia (Susceptibility to) , Panel Massive Sequencing (NGS) 21 Genes.

By Reference Laboratory Genetics in Spain.

RUNX1, TP53, WT1, IDH2, KRAS, NSD1, GATA2, CEBPA, DNMT3A, TERC, TERT, KIT, ASXL1, FLT3, NPM1, JAK2, IDH1, PICALM, CBFB, LPP , (...)

View the complete list with 1 more genes
Specificity
10 %
Genes
100 %
Glioma (Susceptibility to Somatic) , Panel Massive Sequencing (NGS) 12 Genes.

By Reference Laboratory Genetics in Spain.

BRCA2, PTEN, TP53, RB1, IDH2, PRKN, BRAF, LGI1, PIK3CA, EGFR, IDH1, ERBB2
Specificity
17 %
Genes
100 %
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
2 %
Genes
100 %
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
100 %
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
100 %
CEN4GEN Hematological malignancies (somatic genetic testing): Sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

RUNX1, TP53, IDH2, BRAF, PTPN11, ALK, CEBPA, MPL, NF1, NOTCH1, DNMT3A, KMT2A, KIT, ASXL1, FLT3, NPM1, JAK2, ABL1, TET2, PDGFRA , (...)

View the complete list with 3 more genes
Specificity
9 %
Genes
100 %
CEN4GEN Comprehensive Solid tumors (somatic genetic testing): Sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

BRCA1, BRCA2, VHL, APC, PTEN, TP53, WT1, RB1, RET, IDH2, BRAF, HRAS, KRAS, NRAS, FGFR2, MAP2K2, ATM, PTCH1, STK11, CDKN2A , (...)

View the complete list with 12 more genes
Specificity
7 %
Genes
100 %
CEN4GEN Comprehensive targeted oncogene tumor mutation screen (somatic genetic testing): Sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

VHL, APC, MLH1, PTEN, TP53, HNF1A, RB1, RET, FGFR3, BRAF, HRAS, KRAS, NRAS, PTPN11, FGFR2, ALK, ATM, CDH1, STK11, CDKN2A , (...)

View the complete list with 28 more genes
Specificity
3 %
Genes
50 %
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
50 %
Non-Specific Intellectual Disability Panel.

By Genetic Services Laboratory University of Chicago in United States.

FMR1, UBE3A, HSD17B10, OCRL, HPRT1, NHS, MECP2, IDH2, STXBP1, TUBA1A, TUSC3, ALG6, D2HGDH, PDHA1, MAOA, ACSL4, SLC9A6, BCOR, ALDH5A1, L2HGDH , (...)

View the complete list with 153 more genes
Specificity
1 %
Genes
50 %
Autosomal Recessive Non-Specific Intellectual Disability Panel.

By Genetic Services Laboratory University of Chicago in United States.

IDH2, STXBP1, TUSC3, ALG6, D2HGDH, L2HGDH, ARFGEF2, ST3GAL3, NRXN1, KCNJ10, CNTNAP2, VPS13B, NSUN2, PCNT, DDHD2, ERLIN2, AP4S1, AP4B1, AP4E1, AP4M1 , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
50 %
D-2-hydroxyglutaric Aciduria Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

IDH2, D2HGDH
Specificity
50 %
Genes
50 %
D-2-Hydroxyglutaric Aciduria Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

IDH2, D2HGDH
Specificity
50 %
Genes
50 %
D-2 and L-2 Hydroxyglutaric Aciduria Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

IDH2, D2HGDH, L2HGDH, SLC25A1
Specificity
25 %
Genes
50 %
D-2-hydroxyglutaric aciduria 2 (sequence analysis of IDH2 gene).

By CGC Genetics in Portugal.

IDH2
Specificity
100 %
Genes
50 %
Acute myeloid leukemia (AML, sequence analysis of exon 4 of IDH2 gene).

By CGC Genetics in Portugal.

IDH2
Specificity
100 %
Genes
50 %
Glioma (sequence analysis of exon 4 of IDH2 gene).

By CGC Genetics in Portugal.

IDH2
Specificity
100 %
Genes
50 %
Organic Aciduria Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

MCCC1, MCCC2, ACAT1, HLCS, BCKDHA, BCKDHB, MMACHC, DLD, ACSF3, ALDH6A1, IDH2, PCCB, PCCA, D2HGDH, MMADHC, MCEE, MMAB, MMAA, MUT, DBT , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
50 %
Leukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

PC, TYROBP, ATP7A, ATP7B, TWNK, ADSL, HSD17B4, CPS1, PSAP, GLB1, OCRL, POLG, NDUFS4, HSPD1, SLC25A4, RRM2B, FH, COQ9, DNM1L, DGUOK , (...)

View the complete list with 134 more genes
Specificity
1 %
Genes
50 %
D-2-Hydroxyglutaric Aciduria Type II via the IDH2 Gene - Targeted Variants Analysis.

By PreventionGenetics PreventionGenetics in United States.

IDH2
Specificity
100 %
Genes
50 %
Hydroxyglutaric Aciduria Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

IDH2, D2HGDH, L2HGDH, SLC25A1
Specificity
25 %
Genes
50 %
D-2-hydroxyglutaric aciduria type II (IDH2).

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

IDH2
Specificity
100 %
Genes
50 %
Comprehensive mitochondrial disorders panel.

By Centogene AG - the Rare Disease Company in Germany.

MCCC1, MCCC2, ACAD9, ACADM, ACADS, ACADVL, ACAT1, PC, UQCRB, HLCS, ATP5F1E, ATP7B, ATPAF2, AUH, BCKDHA, BCKDHB, BCS1L, TWNK, STAR, MTRR , (...)

View the complete list with 160 more genes
Specificity
1 %
Genes
50 %
IDH2, selective sequencing of exon 4.

By Centogene AG - the Rare Disease Company in Germany.

IDH2
Specificity
100 %
Genes
50 %
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
50 %
Arrhythmia General Panel.

By Health in Code in Spain.

HFE, TTR, AARS2, ACAD9, AGL, ACADVL, ATP5F1E, ATPAF2, GAA, ELAC2, PSEN1, EYA4, GNPTAB, GLB1, PITX2, DSP, DLD, SLC25A4, FOXRED1, CRYAB , (...)

View the complete list with 198 more genes
Specificity
1 %
Genes
50 %
Hypertrophic cardiomyopathy extended panel.

By Health in Code in Spain.

TTR, AARS2, ACAD9, AGL, ACADVL, ATP5F1E, ATPAF2, GAA, ELAC2, GNPTAB, GLB1, DSP, DLD, SLC25A4, FOXRED1, CRYAB, RAF1, MTO1, MRPL3, LIAS , (...)

View the complete list with 84 more genes
Specificity
1 %
Genes
50 %
Cardiomyopathies General Panel.

By Health in Code in Spain.

HFE, TTR, AARS2, ACAD9, AGL, ACADVL, ATP5F1E, ATPAF2, GAA, ELAC2, PSEN1, EYA4, GNPTAB, GLB1, DSP, DLD, SLC25A4, FOXRED1, CRYAB, RAF1 , (...)

View the complete list with 153 more genes
Specificity
1 %
Genes
50 %
IDH2 Exon 4 Mutation Detection.

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

IDH2
Specificity
100 %
Genes
50 %
Invitae Organic Acidemias Panel.

By Invitae in United States.

MCCC1, MCCC2, ACAT1, FBP1, HLCS, BTD, AUH, BCKDHA, BCKDHB, MMACHC, HSD17B10, POLG, OPA3, ACSF3, TMEM70, HMGCL, IDH2, SUCLA2, ACAD8, DNAJC19 , (...)

View the complete list with 29 more genes
Specificity
3 %
Genes
50 %
Invitae 2-Hydroxyglutaric Aciduria Panel.

By Invitae in United States.

IDH2, D2HGDH, L2HGDH, SLC25A1
Specificity
25 %
Genes
50 %
IDH2.

By Fulgent Genetics Fulgent Genetics in United States.

IDH2
Specificity
100 %
Genes
50 %
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
50 %
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
50 %
Circulo Hematological.

By Circulogene Theranostics in United States.

IDH2
Specificity
100 %
Genes
50 %
NeoTYPE® Discovery Profile for Solid Tumors.

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

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

View the complete list with 295 more genes
Specificity
1 %
Genes
50 %

Alternate names

Multiple Enchondromatosis, Maffucci Type Is also known as maffucci syndrome;.



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