Deutsch
IllnessPyruvate Carboxylase Deficiency, differential diagnosis
Summary
Short information
Comprehensive differential diagnostic panel for Pyruvate Carboxylase deficiency comprising altogether 10 curated genes [including 2 guideline-curated genes] according to the clinical signs
ID
PP5552
Number of genes
10
Accredited laboratory test
Examined sequence length
5,2 kb (Core-/Core-canditate-Genes)
16,2 kb (Extended panel: incl. additional genes)
16,2 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
Gene panel
Selected genes
| Name | Exon Length (bp) | OMIM-G | Referenz-Seq. | Heredity |
|---|---|---|---|---|
| BTD | 1572 | NM_001370658.1 | AR | |
| PC | 3537 | NM_000920.4 | AR | |
| CA5A | 918 | NM_001739.2 | AR | |
| DLAT | 1944 | NM_001931.5 | AR | |
| DLD | 1530 | NM_000108.5 | AR | |
| PDHA1 | 1173 | NM_000284.4 | XL | |
| PDHB | 1080 | NM_000925.4 | AR | |
| PDHX | 1506 | NM_003477.3 | AR | |
| PDK3 | 1248 | NM_001142386.3 | XL | |
| PDP1 | 1689 | NM_001161779.2 | AR |
Informations about the disease
Synonyms
- Alias: Ataxie mit Laktatazidose Typ 2
- Alias: Leigh-Syndrom durch Pyruvat-Carboxylase-Mangel
- Alias: Nekrotisierende Enzephalopathie durch Pyruvat-Carboxylase-Mangel
- Alias: Pyruvat-Carboxylase-Mangel
- Biotinidase deficiency (BTD)
- Charcot-Marie-Tooth disease, XLD, 6 (PDK3)
- Dihydrolipoamide dehydrogenase deficiency (DLD)
- Hyperammonemia due to carbonic anhydrase VA deficiency (CA5A)
- Lacticacidemia due to PDX1 deficiency (PDHX)
- Pyruvate carboxylase deficiency (PC)
- Pyruvate dehydrogenase E1-alpha deficiency (PDHA1)
- Pyruvate dehydrogenase E1-beta deficiency (PDHB)
- Pyruvate dehydrogenase E2 deficiency (DLAT)
- Pyruvate dehydrogenase phosphatase deficiency (PDP1)
Heredity, heredity patterns etc.
- AR
- XL
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatics and clinical interpretation
No text defined