Deutsch
IllnessCreatin deficiency syndromes, differential diagnosis
Summary
Short information
Comprehensive differential diagnostic panel for Creatin deficiency syndromes comprising 3 or 11 curated genes according to the clinical signs
ID
KP2837
Number of genes
10
Accredited laboratory test
Examined sequence length
3,9 kb (Core-/Core-canditate-Genes)
13,8 kb (Extended panel: incl. additional genes)
13,8 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Test material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
Gene panel
Selected genes
| Name | Exon Length (bp) | OMIM-G | Referenz-Seq. | Heredity |
|---|---|---|---|---|
| GAMT | 711 | NM_000156.6 | AR | |
| GATM | 1272 | NM_001482.3 | AR | |
| SLC6A8 | 1908 | NM_005629.4 | XLR | |
| ALDH18A1 | 2388 | NM_002860.4 | AD, AR | |
| ASL | 1395 | NM_000048.4 | AR | |
| ASS1 | 1239 | NM_000050.4 | AR | |
| OAT | 1320 | NM_000274.4 | AR | |
| OTC | 1065 | NM_000531.6 | XLR | |
| SLC25A15 | 906 | NM_014252.4 | AR | |
| SLC7A7 | 1536 | NM_001126105.3 | AR |
Informations about the disease
Synonyms
- Argininosuccinic aciduria (ASL)
- Cerebral creatine deficiency syndrome 1 (SLC6A8)
- Cerebral creatine deficiency syndrome 2 (GAMT)
- Cerebral creatine deficiency syndrome 3 (GATM)
- Citrullinemia (ASS1)
- Cutis laxa, AD 3 (ALDH18A1)
- Cutis laxa, AR, type IIIA (ALDH18A1)
- Fanconi renotubular syndrome 1 (GATM)
- Gyrate atrophy of choroid + retina with/.out ornithinemia (OAT)
- Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome (SLC25A15)
- Lysinuric protein intolerance (SLC7A7)
- Ornithine transcarbamylase deficiency (OTC)
- Pyruvate carboxylase deficiency (PC)
- Spastic paraplegia 9A, AD (ALDH18A1)
- Spastic paraplegia 9B, AR (ALDH18A1)
Heredity, heredity patterns etc.
- AD
- AR
- XLR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatics and clinical interpretation
No text defined