Deutsch
IllnessFolate malabsorption, hereditary; differential diagnosis
Summary
Short information
Comprehensive differential diagnostic panel for Folate malabsorption, hereditary comprising altogether 13 curated genes according to the clinical signs
ID
FP9222
Number of loci
| Loci type | Count |
|---|---|
| Gen | 13 |
Examined sequence length
1,3 kb (Core-/Core-canditate-Genes)
24,9 kb (Extended panel: incl. additional genes)
24,9 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Test material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
Loci panel
Gen
| Name | Exon Length (bp) | OMIM-G | Referenz-Seq. | Heredity |
|---|---|---|---|---|
| SLC46A1 | 1297 | NM_001242366.3 | AR | |
| ABCD4 | 1821 | NM_005050.4 | AR | |
| FOLR1 | 774 | NM_016725.3 | AR | |
| FTCD | 1626 | NM_006657.3 | AR | |
| HCFC1 | 6108 | NM_005334.3 | XLR | |
| IL2RG | 1110 | NM_000206.3 | XLR | |
| LMBRD1 | 1623 | NM_018368.4 | AR | |
| MMACHC | 849 | NM_015506.3 | AR | |
| MMADHC | 891 | NM_015702.3 | AR | |
| MTR | 3798 | NM_000254.3 | AR | |
| MTRR | 2097 | NM_002454.3 | AR | |
| THAP11 | 946 | NM_020457.3 | AR | |
| ZNF143 | 1935 | NM_003442.6 | AR |
Informations about the disease
Synonyms
- 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)
Heredity, heredity patterns etc.
- AR
- XLR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatics and clinical interpretation
No text defined