Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome; Mdpl

Description

Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL) is an autosomal dominant systemic disorder characterized by prominent loss of subcutaneous fat, a characteristic facial appearance, and metabolic abnormalities including insulin resistance and diabetes mellitus. Sensorineural deafness occurs late in the first or second decades of life (summary by Weedon et al., 2013).

Clinical Features

Top most frequent phenotypes and symptoms related to Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome; Mdpl

  • Hearing impairment
  • Scoliosis
  • Growth delay
  • Micrognathia
  • Sensorineural hearing impairment
  • Cataract
  • Cryptorchidism
  • Flexion contracture
  • Hepatomegaly
  • Abnormality of the skeletal system
And another 24 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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Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome; Mdpl Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Inherited Colon Cancer.

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

APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, POLD1, GREM1
Specificity
12 %
Genes
100 %
VistaSeq Colorectal Cancer Panel.

By Molecular Diagnostic Laboratory LabCorp in United States.

BRCA1, BRCA2, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, BLM, ATM, CDH1, STK11, CDKN2A, CHEK2, BMPR1A, SMAD4, POLD1 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
myRisk Hereditary Cancer.

By Myriad Genetic Laboratories, Inc. Myriad Genetic Laboratories, Inc. in United States.

BRCA1, BRCA2, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, ATM, NBN, PALB2, CDH1, STK11, CDK4, CDKN2A, CHEK2, BMPR1A , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
100 %
Partial Lipodystrophy Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

PPARG, LMNA, LMNB2, CAV1, ZMPSTE24, PSMB8, POLD1, AKT2, ADRA2A, PIK3R1, LIPE, TBC1D4, CIDEC, PLIN1
Specificity
8 %
Genes
100 %
Comprehensive Lipodystrophy Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

PPARG, FBN1, CAVIN1, LMNA, BSCL2, LMNB2, CAV1, ZMPSTE24, PSMB8, POLD1, AKT2, ADRA2A, PIK3R1, LIPE, TBC1D4, CIDEC, PLIN1, KCNJ6, AGPAT2
Specificity
6 %
Genes
100 %
Lynch Syndrome Panel.

By Genetic Services Laboratory University of Chicago in United States.

EPCAM, MSH2, PMS2, MSH6, MLH1, POLD1, POLE
Specificity
15 %
Genes
100 %
Comprehensive Lipodystrophy Panel.

By Genetic Services Laboratory University of Chicago in United States.

PPARG, FBN1, CAVIN1, LMNA, BSCL2, LMNB2, CAV1, ZMPSTE24, PSMB8, POLD1, AKT2, ADRA2A, PIK3R1, LIPE, TBC1D4, CIDEC, PLIN1, KCNJ6, AGPAT2
Specificity
6 %
Genes
100 %
Partial Lipodystrophy Panel.

By Genetic Services Laboratory University of Chicago in United States.

PPARG, LMNA, LMNB2, CAV1, ZMPSTE24, PSMB8, POLD1, AKT2, ADRA2A, PIK3R1, LIPE, TBC1D4, CIDEC, PLIN1
Specificity
8 %
Genes
100 %
Comprehensive Hereditary Cancer Panel.

By Genetic Services Laboratory University of Chicago in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RUNX1, TP53, SDHAF2, RET, SDHC, FH, SDHB, ANKRD26, TMEM127 , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
100 %
Hereditary Colorectal Cancer High Risk Panel.

By Genetic Services Laboratory University of Chicago in United States.

APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, POLD1, POLE
Specificity
12 %
Genes
100 %
Colorectal Polyposis Panel.

By Genetic Services Laboratory University of Chicago in United States.

APC, MUTYH, PTEN, STK11, BMPR1A, SMAD4, ENG, POLD1, GREM1, POLE, AXIN2, BUB1B
Specificity
9 %
Genes
100 %
Comprehensive Hereditary Colorectal Cancer Panel.

By Genetic Services Laboratory University of Chicago in United States.

APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, CDH1, STK11, CHEK2, BMPR1A, SMAD4, ENG, POLD1, GREM1, POLE, AXIN2, BUB1B , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Hereditary Cancer Panel Comprehensive.

By Molecular Genetics Laboratory London Health Sciences Centre in Canada.

BRCA1, BRCA2, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, SDHB, ATM, NBN, PALB2, CDH1, STK11, CDK4, CDKN2A, CHEK2 , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
100 %
Colorectal Cancer Panel.

By GeneDx in United States.

APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, ATM, CDH1, STK11, CHEK2, BMPR1A, SMAD4, POLD1, GREM1, POLE, AXIN2
Specificity
6 %
Genes
100 %
Endometrial Cancer Panel.

By GeneDx in United States.

BRCA1, BRCA2, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, CHEK2, POLD1
Specificity
9 %
Genes
100 %
Hereditary Cancer Panel - Colorectal20.

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center in United States.

APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, ATM, CDH1, STK11, CHEK2, BMPR1A, SMAD4, POLD1, GREM1, POLE, AXIN2, GALNT12
Specificity
5 %
Genes
100 %
CancerNext-Expanded.

By Ambry Genetics in United States.

BRCA1, BRCA2, VHL, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, RB1, SDHAF2, RET, SDHC, FH, SDHB, TMEM127, MEN1, SDHA , (...)

View the complete list with 44 more genes
Specificity
2 %
Genes
100 %
CancerNext.

By Ambry Genetics in United States.

BRCA1, BRCA2, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, ATM, MRE11, NBN, PALB2, CDH1, STK11, CDK4, CDKN2A, CHEK2 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
100 %
ColoNext.

By Ambry Genetics in United States.

APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, CDH1, STK11, CHEK2, BMPR1A, SMAD4, POLD1, GREM1, POLE
Specificity
6 %
Genes
100 %
CustomNext: Cancer.

By Ambry Genetics in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, RB1, SDHAF2, RET, SDHC, FH, SDHB, TMEM127, MEN1 , (...)

View the complete list with 48 more genes
Specificity
2 %
Genes
100 %
TumorNext-Lynch+ColoNext.

By Ambry Genetics in United States.

APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, BRAF, KRAS, NRAS, CDH1, STK11, CHEK2, BMPR1A, SMAD4, POLD1, GREM1, POLE
Specificity
5 %
Genes
100 %
TumorNext-HRD+CancerNext.

By Ambry Genetics in United States.

BRCA1, BRCA2, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, ATM, MRE11, NBN, PALB2, CDH1, STK11, CDK4, CDKN2A, CHEK2 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
100 %
TumorNext-Lynch+CancerNext.

By Ambry Genetics in United States.

BRCA1, BRCA2, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, BRAF, KRAS, NRAS, ATM, MRE11, NBN, PALB2, CDH1, STK11 , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
100 %
Hereditary Colorectal and Gastrointestinal Cancer Panel.

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

BRCA1, BRCA2, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, ATM, PALB2, CDH1, STK11, CDK4, CDKN2A, CHEK2, BMPR1A, SMAD4 , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
100 %
CHOP Comprehensive Hereditary Cancer Panel.

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

BRCA1, BRCA2, HFE, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, ABCB11, RB1, SDHAF2, RET, SLC25A13, SDHC, FH , (...)

View the complete list with 86 more genes
Specificity
1 %
Genes
100 %
Hereditary colon cancer (panel NGS of 21 genes).

By CGC Genetics in Portugal.

APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, CDH1, STK11, CHEK2, BMPR1A, SMAD4, TGFBR2, POLD1, POLE, AXIN2, GALNT12, MLH3 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Progeroid syndromes (NGS panel for 12 genes).

By CGC Genetics in Portugal.

FBN1, BLM, LMNA, CAV1, ZMPSTE24, ERCC6, POLD1, ERCC8, KCNJ6, WRN, SPRTN, BANF1
Specificity
9 %
Genes
100 %
Lipodystrophies and progeroid syndromes (NGS panel for 25 genes).

By CGC Genetics in Portugal.

PPARG, FBN1, CAVIN1, BLM, LMNA, BSCL2, LMNB2, CAV1, ZMPSTE24, PSMB8, ERCC6, POLD1, AKT2, ERCC8, PIK3R1, LIPE, TBC1D4, CIDEC, PLIN1, KCNJ6 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
100 %
Hereditary colon cancer (panel NGS of 21 genes).

By CGC Genetics in Portugal.

APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, CDH1, STK11, CHEK2, BMPR1A, SMAD4, TGFBR2, POLD1, POLE, AXIN2, GALNT12, MLH3 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Progeroid syndromes (NGS panel for 12 genes).

By CGC Genetics in Portugal.

FBN1, BLM, LMNA, CAV1, ZMPSTE24, ERCC6, POLD1, ERCC8, KCNJ6, WRN, SPRTN, BANF1
Specificity
9 %
Genes
100 %
Lipodystrophies and progeroid syndromes (NGS panel for 25 genes).

By CGC Genetics in Portugal.

PPARG, FBN1, CAVIN1, BLM, LMNA, BSCL2, LMNB2, CAV1, ZMPSTE24, PSMB8, ERCC6, POLD1, AKT2, ERCC8, PIK3R1, LIPE, TBC1D4, CIDEC, PLIN1, KCNJ6 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
100 %
Hereditary colorectal cancer.

By Laboratory of Genetics HUSLAB in Finland.

APC, MSH2, PMS2, MSH6, MLH1, MUTYH, STK11, BMPR1A, SMAD4, POLD1, POLE, MLH3
Specificity
9 %
Genes
100 %
Cancer Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, RET, MEN1, ATM, NBN, PALB2, CDH1, STK11, CDK4 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
100 %
Colorectal Cancer Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, ATM, CDH1, STK11, CHEK2, BMPR1A, SMAD4, POLD1, POLE
Specificity
6 %
Genes
100 %
Colorectal Cancer Predisposition via POLD1 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

POLD1
Specificity
100 %
Genes
100 %
Hereditary Polyposis Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

APC, MUTYH, POLD1, POLE, NTHL1, MSH3
Specificity
17 %
Genes
100 %
Hereditary Endometrial Cancer Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

BRCA1, BRCA2, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, CHEK2, POLD1
Specificity
9 %
Genes
100 %
Progeroid syndromes and related disorders NGS panel.

By Connective Tissue Gene Tests in United States.

RECQL4, B4GALT7, PYCR1, FBN1, ALDH18A1, LMNA, BSCL2, ERCC2, ERCC3, ZMPSTE24, ERCC6, ERCC4, B3GALT6, POLD1, ERCC8, AGPAT2, WRN, PDGFRB, ERCC5, BANF1 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Progeroid syndromes and related disorders Comprehensive panel.

By Connective Tissue Gene Tests in United States.

RECQL4, B4GALT7, PYCR1, FBN1, ALDH18A1, LMNA, BSCL2, ERCC2, ERCC3, ZMPSTE24, ERCC6, ERCC4, B3GALT6, POLD1, ERCC8, AGPAT2, WRN, PDGFRB, ERCC5, BANF1 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Progeroid syndromes and related disorders Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

RECQL4, B4GALT7, PYCR1, FBN1, ALDH18A1, LMNA, BSCL2, ERCC2, ERCC3, ZMPSTE24, ERCC6, ERCC4, B3GALT6, POLD1, ERCC8, AGPAT2, WRN, PDGFRB, ERCC5, BANF1 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
POLD1.

By MGZ Medical Genetics Center in Germany.

POLD1
Specificity
100 %
Genes
100 %
Hereditary Cancer Syndromes - panels.

By MGZ Medical Genetics Center in Germany.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, HNF1A, WT1, RB1, SDHAF2, RET, SDHC , (...)

View the complete list with 80 more genes
Specificity
1 %
Genes
100 %
Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome.

By Centogene AG - the Rare Disease Company in Germany.

POLD1
Specificity
100 %
Genes
100 %
CentoCancer panel.

By Centogene AG - the Rare Disease Company in Germany.

BRCA1, BRCA2, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, FH, BLM, ATM, NBN, PALB2, CDH1, STK11, CDK4, CDKN2A , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
100 %
CentoColon extended panel.

By Centogene AG - the Rare Disease Company in Germany.

APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, CDH1, STK11, CHEK2, BMPR1A, SMAD4, POLD1, POLE, NTHL1
Specificity
6 %
Genes
100 %
Colon Cancer Panel.

By CeGaT GmbH in Germany.

APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, NBN, STK11, FLCN, CHEK2, BMPR1A, SMAD4, POLD1, POLE, RINT1, AXIN1
Specificity
6 %
Genes
100 %
Progeria syndromes Panel.

By CeGaT GmbH in Germany.

RECQL4, B4GALT7, PYCR1, ALDH18A1, BLM, LMNA, ERCC2, ERCC3, ZMPSTE24, ERCC6, ERCC4, POLD1, ERCC8, PTDSS1, WRN, ERCC5, GTF2H5, BANF1
Specificity
6 %
Genes
100 %
Inherited Cancer Screen.

By Counsyl in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, RET, SDHC, SDHB, MEN1, SDHA, ATM, MRE11, NBN , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
100 %
qCancer Risk.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

BRCA1, BRCA2, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, ATM, MRE11, NBN, PALB2, CDH1, STK11, CDK4, CDKN2A, CHEK2 , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
100 %
qCancer Risk Expanded.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, SDHAF2, RET, SDHC, FH, SDHB, TMEM127, MEN1, TSC2 , (...)

View the complete list with 25 more genes
Specificity
3 %
Genes
100 %
qCancer Gine.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

BRCA1, BRCA2, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, ATM, MRE11, NBN, PALB2, CDH1, STK11, CHEK2, RAD50, BRIP1, RAD51C , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
100 %
qCancer Colorrectal.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, CDH1, STK11, CHEK2, BMPR1A, SMAD4, POLD1, GREM1, POLE
Specificity
6 %
Genes
100 %
Invitae Common Hereditary Cancers Panel (Breast, Gyn, GI).

By Invitae in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, SDHC, SDHB, MEN1, SDHA, TSC2, TSC1, ATM, NBN , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
100 %
Invitae Multi-Cancer Panel.

By Invitae in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, WT1, RB1, SDHAF2, RET, SDHC, FH , (...)

View the complete list with 60 more genes
Specificity
2 %
Genes
100 %
Invitae Colorectal Cancer Panel.

By Invitae in United States.

APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, CDH1, STK11, CHEK2, BMPR1A, SMAD4, POLD1, GREM1, POLE, AXIN2
Specificity
6 %
Genes
100 %
Hereditary Cancer Syndrome: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

BRCA1, BRCA2, VHL, APC, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, WT1, SDHAF2, RET, SDHC, FH, SDHB, TMEM127, MEN1, BLM , (...)

View the complete list with 40 more genes
Specificity
2 %
Genes
100 %
Gastrointestinal and Colorectal Cancer: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

BRCA1, BRCA2, APC, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, BLM, ATM, CDH1, STK11, CDKN2A, CHEK2, BMPR1A, SMAD4, POLD1
Specificity
6 %
Genes
100 %
Gastrointestinal and Colorectal Cancer: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

BRCA1, BRCA2, APC, EPCAM, MSH2, MSH6, MLH1, MUTYH, PTEN, TP53, BLM, ATM, CDH1, STK11, CDKN2A, CHEK2, BMPR1A, SMAD4, POLD1
Specificity
6 %
Genes
100 %
Hereditary Cancer Syndrome: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, MSH6, MLH1, MUTYH, PTEN, TP53, WT1, SDHAF2, RET, SDHC, FH, SDHB, TMEM127, MEN1, BLM , (...)

View the complete list with 35 more genes
Specificity
2 %
Genes
100 %
Hereditary Cancer NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, TP53, WT1, RB1, SDHAF2, RET, MC1R, TYR, KIF1B , (...)

View the complete list with 92 more genes
Specificity
1 %
Genes
100 %
POLD1.

By Fulgent Genetics Fulgent Genetics in United States.

POLD1
Specificity
100 %
Genes
100 %
Focus Cancer Panel - 40 Genes.

By Fulgent Genetics Fulgent Genetics in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, RET, MEN1, FANCC, ATM, MRE11, NBN, PTCH1, PALB2 , (...)

View the complete list with 20 more genes
Specificity
3 %
Genes
100 %
Colorectal Cancer Focus Panel.

By Fulgent Genetics Fulgent Genetics in United States.

APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, STK11, CHEK2, BMPR1A, SMAD4, POLD1, POLE, AXIN2
Specificity
7 %
Genes
100 %
Endometrial Cancer Focus Panel.

By Fulgent Genetics Fulgent Genetics in United States.

BRCA1, BRCA2, EPCAM, MSH2, PMS2, MSH6, MLH1, PTEN, TP53, POLD1
Specificity
10 %
Genes
100 %
Comprehensive Cancer Panel.

By Fulgent Genetics Fulgent Genetics in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, WT1, RB1, SDHAF2, RET, MC1R, TYR , (...)

View the complete list with 104 more genes
Specificity
1 %
Genes
100 %
Endometrial Cancer Comprehensive Panel.

By Fulgent Genetics Fulgent Genetics in United States.

BRCA1, BRCA2, EPCAM, MSH2, PMS2, MSH6, MLH1, PTEN, TP53, POLD1
Specificity
10 %
Genes
100 %
Colorectal Cancer Comprehensive Panel.

By Fulgent Genetics Fulgent Genetics in United States.

APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, STK11, CHEK2, BMPR1A, SMAD4, POLD1, GREM1, POLE, AXIN2, GALNT12, MLH3
Specificity
6 %
Genes
100 %
MyVantage(TM) Hereditary Comprehensive Cancer Panel.

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

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, RET, SDHC, SDHB, MEN1, ATM, NBN, PALB2, CDH1 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
100 %
Comprehensive Hereditary Cancer Panel.

By Blueprint Genetics in Finland.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, HNF1A, WT1, SDHAF2, RET, SDHC, RAF1 , (...)

View the complete list with 126 more genes
Specificity
1 %
Genes
100 %
Hereditary Colorectal Cancer Panel.

By Blueprint Genetics in Finland.

APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, BLM, STK11, BMPR1A, SMAD4, POLD1, GREM1, POLE, AXIN2, NTHL1
Specificity
6 %
Genes
100 %
Hereditary Gastrointestinal Cancer Panel.

By Blueprint Genetics in Finland.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, SDHC, SDHB, TMEM127, MEN1, FANCC, BLM, TSC2, TSC1 , (...)

View the complete list with 19 more genes
Specificity
3 %
Genes
100 %
Hereditary Cancer High Risk Panel.

By Blueprint Genetics in Finland.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, RET, MEN1, ATM, PALB2, CDH1, STK11, CDK4, CDKN2A , (...)

View the complete list with 8 more genes
Specificity
4 %
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
1 %
Genes
100 %
Gynecologic Tumors Gene Set.

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

BRCA1, BRCA2, VHL, APC, MLH1, PTEN, TP53, FOXL2, RB1, BCOR, FGFR3, BRAF, HRAS, KRAS, MAP2K1, NRAS, FGFR2, MAP2K2, ATM, STK11 , (...)

View the complete list with 30 more genes
Specificity
2 %
Genes
100 %
Hereditary Cancer Comprehensive Panel.

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

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RUNX1, TP53, WT1, RET, SDHC, SDHB, MEN1, ATM, MRE11 , (...)

View the complete list with 53 more genes
Specificity
2 %
Genes
100 %
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
100 %
Hereditary Cancer.

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

BRCA1, BRCA2, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, ATM, NBN, PALB2, CDH1, STK11, CDKN2A, CHEK2, BMPR1A, SMAD4 , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
100 %
genTrue.

By True Health Diagnostics in United States.

BRCA1, BRCA2, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, ATM, NBN, PALB2, CDH1, STK11, CDK4, CDKN2A, CHEK2, BMPR1A , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %
Phosphorus Colorectal Cancer Panel.

By Phosphorus Diagnostics LLC in United States.

APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, CDH1, STK11, CHEK2, BMPR1A, SMAD4, POLD1, GREM1, POLE, AXIN2
Specificity
6 %
Genes
100 %
Phosphorus Pan-Cancer Panel.

By Phosphorus Diagnostics LLC in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, WT1, RB1, SDHAF2, RET, SDHC, FH , (...)

View the complete list with 63 more genes
Specificity
2 %
Genes
100 %
Phosphorus Common/High Risk Cancers Panel.

By Phosphorus Diagnostics LLC in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, ATM, NBN, PALB2, CDH1, STK11, CDK4, CDKN2A, CHEK2 , (...)

View the complete list with 12 more genes
Specificity
4 %
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 Comprehensive Hereditary Cancer Syndrome: Gene sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

BRCA1, BRCA2, HFE, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, WT1, RB1, SDHAF2, RET, MC1R , (...)

View the complete list with 123 more genes
Specificity
1 %
Genes
100 %
Gastrointestinal and Colorectal Cancer: gene sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

BRCA1, BRCA2, APC, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, BLM, ATM, CDH1, STK11, CDKN2A, CHEK2, BMPR1A, SMAD4, POLD1
Specificity
6 %
Genes
100 %
Gastrointestinal and Colorectal Cancer: Gene Deletion/Duplication Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

BRCA1, BRCA2, APC, EPCAM, MSH2, MSH6, MLH1, MUTYH, PTEN, TP53, BLM, ATM, CDH1, STK11, CDKN2A, CHEK2, BMPR1A, SMAD4, POLD1
Specificity
6 %
Genes
100 %
Hereditary Cancer Syndrome: Gene Sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

BRCA1, BRCA2, VHL, APC, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, WT1, SDHAF2, RET, SDHC, FH, SDHB, TMEM127, MEN1, BLM , (...)

View the complete list with 40 more genes
Specificity
2 %
Genes
100 %
Hereditary Cancer Syndrome: Gene Deletion/Duplication Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, MSH6, MLH1, MUTYH, PTEN, TP53, WT1, SDHAF2, RET, SDHC, FH, SDHB, TMEM127, MEN1, BLM , (...)

View the complete list with 35 more genes
Specificity
2 %
Genes
100 %

Alternate names

Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome; Mdpl Is also known as ;mdp syndrome; mandibular hypoplasia-hearing loss-progeroid syndrome.



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like TOWNES-BROCKS SYNDROME 1; TBS1 KOHLSCHUTTER-TONZ SYNDROME; KTZS MITOCHONDRIAL MYOPATHY, LETHAL, INFANTILE; LIMM MARSHALL-SMITH SYNDROME; MRSHSS MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE; MDCMC

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