Klinische FragestellungFolat-Malabsorption, hereditäre; Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Folat-Malabsorption, hereditäre mit zusammen genommen 13 kuratierten Genen gemäß klinischer Verdachtsdiagnose

FP9222

Anzahl Loci

Locus-Typ	Anzahl
Gen	13

Akkreditierte Untersuchung

Untersuchte Sequenzlänge

1,3 kb (Core-/Core-canditate-Gene)
24,9 kb (Erweitertes Panel: inkl. additional genes)

Analyse-Dauer

auf Anfrage

Untersuchungsmaterial

EDTA-Blut (3-5 ml)

Diagnostische Hinweise

NGS +

Loci

Gen

Name	Exon-Länge (bp)	OMIM-G	Referenz-Seq.	Erbgang
SLC46A1	1297	611672	NM_001242366.3	AR
ABCD4	1821	603214	NM_005050.4	AR
FOLR1	774	136430	NM_016725.3	AR
FTCD	1626	606806	NM_006657.3	AR
HCFC1	6108	300019	NM_005334.3	XLR
IL2RG	1110	308380	NM_000206.3	XLR
LMBRD1	1623	612625	NM_018368.4	AR
MMACHC	849	609831	NM_015506.3	AR
MMADHC	891	611935	NM_015702.3	AR
MTR	3798	156570	NM_000254.3	AR
MTRR	2097	602568	NM_002454.3	AR
THAP11	946	609119	NM_020457.3	AR
ZNF143	1935	603433	NM_003442.6	AR

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.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Bioinformatik und klinische Interpretation

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