Klinische FragestellungMorbus Milroy, Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Morbus Milroy, Differentialdiagnose, mit 1 "core candidate"-Gen und zusammen genommen 20 kuratierten Genen gemäß klinischer Verdachtsdiagnose

MP4448

Anzahl Gene

20 Akkreditierte Untersuchung

Untersuchte Sequenzlänge

4,1 kb (Core-/Core-canditate-Gene)
59,7 kb (Erweitertes Panel: inkl. additional genes)

Analyse-Dauer

auf Anfrage

Material

EDTA-Blut (3-5 ml)

Diagnostische Hinweise

NGS +

Genpanel

Ausgewählte Gene

Name	Exon-Länge (bp)	OMIM-G	Referenz-Seq.	Erbgang
FLT4	4092	136352	NM_182925.5	AD
ADAMTS3	3653	605011	NM_014243.3	AR
BRAF	2301	164757	NM_004333.6	AD
CBL	2721	165360	NM_005188.4	AD
CCBE1	1221	612753	NM_133459.4	AR
FAT4	14946	612411	NM_024582.6	AR
KIF11	3171	148760	NM_004523.4	AD
KRAS	567	190070	NM_004985.5	AD
LZTR1	2523	600574	NM_006767.4	AD, AR
MAP2K1	1182	176872	NM_002755.4	AD
NRAS	570	164790	NM_002524.5	AD
PIEZO1	7566	611184	NM_001142864.4	AD
PPP1CB	350	617506	NM_002709.3	AD
PTPN11	1782	176876	NM_002834.5	AD
RAF1	1947	164760	NM_002880.4	AD
RIT1	660	609591	NM_006912.6	AD
SOS1	4002	182530	NM_005633.4	AD
SOS2	3999	601247	NM_006939.4	AD
SOX18	1155	601618	NM_018419.3	AD, AR
VEGFC	1263	601528	NM_005429.5	AD

Infos zur Erkrankung

Synonyme

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)

Erbgänge, Vererbungsmuster etc.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Q82.0-

Bioinformatik und klinische Interpretation

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