English
ErkrankungFolat-Malabsorption, hereditäre; Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Folat-Malabsorption, hereditäre mit zusammen genommen 13 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
FP9222
Anzahl Gene
13
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
1,3 kb (Core-/Basis-Gene)
24,9 kb (Erweitertes Panel)
24,9 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
Genpanel
Infos zur Erkrankung
Synonyme
- Allelic: Neural tube defects, folate-sensitive, susceptibility to (MTHFD1)
- Allelic: Neural tube defects, folate-sensitive, susceptibility to (MTR, MTRR)
- Combined immunodeficiency + megaloblastic anemia with/-out hyperhomocysteinemia (MTHFD1)
- Combined immunodeficiency, XL, moderate (IL2RG)
- Folate malabsorption, hereditary (SLC46A1)
- Glutamate formiminotransferase deficiency (FTCD)
- Homocystinuria, cblD type, variant 1 (MMADHC)
- Homocystinuria-megaloblastic anemia, cbl E type (MTRR)
- Homocystinuria-megaloblastic anemia, cblG complementation type (MTR)
- Mental retardation, XL 3 [methylmalonic acidemia + homocysteinemia, cblX type] (HCFC1)
- Methylmalonic aciduria + homocystinuria, cblC type (MMACHC)
- Methylmalonic aciduria + homocystinuria, cblD type (MMADHC)
- Methylmalonic aciduria + homocystinuria, cblF type (LMBRD1)
- Methylmalonic aciduria + homocystinuria, cblJ type (ABCD4)
- Methylmalonic aciduria, cblD type, variant 2 (MMADHC)
- Neurodegeneration due to cerebral folate transport deficiency (FOLR1)
- Severe combined immunodeficiency, XL (IL2RG)
Erbgänge, Vererbungsmuster etc.
- AR
- AR und/oder Dig
- XLR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
D52.8
Bioinformatik und klinische Interpretation
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