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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessMilroy disease, differential diagnosis

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Summary

Short information

Comprehensive differential diagnostic panel for Milroy disease containing 1 core candidate gene and altogether 20 curated genes according to the clinical signs

ID
MP4448
Number of genes
20 Accredited laboratory test
Examined sequence length
4,1 kb (Core-/Core-canditate-Genes)
59,7 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
FLT44092NM_182925.5AD
ADAMTS33653NM_014243.3AR
BRAF2301NM_004333.6AD
CBL2721NM_005188.4AD
CCBE11221NM_133459.4AR
FAT414946NM_024582.6AR
KIF113171NM_004523.4AD
KRAS567NM_004985.5AD
LZTR12523NM_006767.4AD, AR
MAP2K11182NM_002755.4AD
NRAS570NM_002524.5AD
PIEZO17566NM_001142864.4AD
PPP1CB350NM_002709.3AD
PTPN111782NM_002834.5AD
RAF11947NM_002880.4AD
RIT1660NM_006912.6AD
SOS14002NM_005633.4AD
SOS23999NM_006939.4AD
SOX181155NM_018419.3AD, AR
VEGFC1263NM_005429.5AD

Informations about the disease

Synonyms
  • Alias: Hereditary lymphedema type I
  • Alias: Lymphedema, hereditary, IA
  • Alias: Milroy disease
  • Alias: Nonne-Milroy lymphedema
  • Alias: Primary congenital lymphedema
  • Allelic: Congenital heart defects, multiple types, 7 (FLT4)
  • Allelic: Hemangioma, capillary infantile, somatic (FLT4)
  • Allelic: Van Maldergem syndrome 2 (FAT4)
  • Cardiofaciocutaneous syndrome 3 (MAP2K1)
  • Dehydrated hereditary stomatocytosis with/-out pseudohyperkalemia and/or perinatal edema (PIEZO1)
  • Hennekam lymphangiectasia-lymphedema syndrome 1 (CCBE1)
  • Hennekam lymphangiectasia-lymphedema syndrome 2 (FAT4)
  • Hennekam lymphangiectasia-lymphedema syndrome 3 (ADAMTS3)
  • Hypotrichosis-lymphedema-telangiectasia syndrome (SOX18)
  • Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome (SOX18)
  • LEOPARD syndrome 1 (PTPN11)
  • LEOPARD syndrome 2 (RAF1)
  • LEOPARD syndrome 3 (BRAF)
  • Lymphatic malformation 1, Morbus Milroy (FLT4)
  • Lymphatic malformation 4 (VEGFC)
  • Lymphatic malformation 6 (PIEZO1)
  • Microcephaly with/-out chorioretinopathy, lymphedema or mental retardation (KIF11)
  • Noonan syndrome 1 (PTPN11)
  • Noonan syndrome 10 (LZTR1)
  • Noonan syndrome 2 (LZTR1)
  • Noonan syndrome 3 (KRAS)
  • Noonan syndrome 4 (SOS1)
  • Noonan syndrome 5 (RAF1)
  • Noonan syndrome 6 (NRAS)
  • Noonan syndrome 7 (BRAF)
  • Noonan syndrome 8 (RIT)
  • Noonan syndrome 9 (SOS2)
  • Noonan syndrome-like disorder with loose anagen hair 2 (PPP1CB)
  • Noonan syndrome-like disorder with/-out juvenile myelomonocytic leukemia (CBL)
Heredity, heredity patterns etc.
  • AD
  • AR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined