Lymphedema-distichiasis Syndrome

Incidence and onset information

Alternative names

Lymphedema-distichiasis Syndrome Is also known as lymphedema with distichiasis.

Researches and researchers

Doctors, researchs, and experts related to Lymphedema-distichiasis Syndrome extracted from public data.

Lymphedema-distichiasis Syndrome Experts map

Current Researchs and researchers

• LAUSANNE — Pr Tatiana PETROVA

  Investigator of research project - Coordinator of research network
  
  

  • Institution/s:
    — Département d'oncologie UNIL-CHUV, Centre Hospitalier Universitaire Vaudois CHUV
  • Research area/topic::
    

    TheraLymph: Therapeutic approaches for treatment of hereditary lymphedema - CH

Lymphedema-distichiasis Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Non-immune Hydrops Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States). RIT1, RPL11, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, SEC23B, SLC17A5, BRAF, SMPD1, SOS1, SOS2, SOX18, UROS, CBL, SHOC2, ALG9 , (...) View the complete list with 66 more genes Panel complete gene list RIT1, RPL11, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, SEC23B, SLC17A5, BRAF, SMPD1, SOS1, SOS2, SOX18, UROS, CBL, SHOC2, ALG9, CDAN1, KAT6B, ALG1, CHRNA1, CHRND, CHRNG, CANT1, KIAA0586, CLCNKA, CLCNKB, SUMF1, PEX26, FAT4, DHCR7, PIEZO1, WDR35, CCBE1, GNPTAB, FGFR3, FOXC2, G6PD, GALNS, GATA1, GBA, GBE1, GLA, GLB1, GUSB, HADHA, HADHB, HRAS, IDUA, FOXP3, KLF1, KIF23, KRAS, LBR, LIPA, LZTR1, MAP2K1, MAP2K2, MID1, KMT2D, ASAH1, MVK, NEU1, NPC1, NRAS, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX3, PEX6, PIGA, PKLR, PMM2, CTSA, PTH1R, PTPN11, PEX19, PEX5, RAF1, RASA1 Close Specificity 2 % Genes 100 %
NGS Vascular Disorders Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States). SOX18, TEK, VEGFC, GLMN, KRIT1, STAMBP, GJC2, ACVRL1, CCM2, CCBE1, ENG, FLT4, FOXC2, GATA2, GDF2, KIF11, SMAD4, PDCD10, PTEN, PTPN14 , (...) View the complete list with 1 more genes Panel complete gene list SOX18, TEK, VEGFC, GLMN, KRIT1, STAMBP, GJC2, ACVRL1, CCM2, CCBE1, ENG, FLT4, FOXC2, GATA2, GDF2, KIF11, SMAD4, PDCD10, PTEN, PTPN14, RASA1 Close Specificity 5 % Genes 100 %
Lymphedema NGS Multi-Gene Panel (36 Genes). By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam (Netherlands). BRAF, SOS1, SOX18, VEGFC, CBL, SHOC2, GJC2, TUBGCP6, CDK19, SPRED1, FAT4, ALG8, CCBE1, FLT4, FOXC2, GATA2, GJA1, GLA, HGF, HRAS , (...) View the complete list with 16 more genes Panel complete gene list BRAF, SOS1, SOX18, VEGFC, CBL, SHOC2, GJC2, TUBGCP6, CDK19, SPRED1, FAT4, ALG8, CCBE1, FLT4, FOXC2, GATA2, GJA1, GLA, HGF, HRAS, ABCC9, ITGA9, KIF11, KRAS, MAP2K1, MAP2K2, MET, MPI, NAGA, NRAS, PEPD, PMM2, PTPN11, PTPN14, RAF1, RELN Close Specificity 3 % Genes 100 %
FOXC2. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). FOXC2 Specificity 100 % Genes 100 %
Lymphedema-distichiasis syndrome (sequence analysis of FOXC2 gene). By CGC Genetics (Portugal). FOXC2 Specificity 100 % Genes 100 %
Alveolar capillary dysplasia with misalignment of pulmonary veins (deletions/duplications analysis of 16q24.1 region). By CGC Genetics (Portugal). FOXC2, FOXF1, MYCN Specificity 34 % Genes 100 %
Alveolar capillary dysplasia with misalignment of pulmonary veins (deletions/duplications analysis of 16q24.1 region). By CGC Genetics (Portugal). FOXC2, FOXF1, MYCN Specificity 34 % Genes 100 %
Lymphedema Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). SOX18, VEGFC, GJC2, FAT4, PIEZO1, CCBE1, FLT4, FOXC2, GATA2, GJA1, KIF11, PTPN14 Specificity 9 % Genes 100 %

Sources and references

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