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IllnessDyskeratosis congenita, differential diagnosis
Summary
Short information
Comprehensive differential diagnostic panel for Dyskeratosis congenita comprising 8 guideline-curated genes and altogether 18 curated genes according to the clinical signs
ID
DP8272
Number of genes
12
Accredited laboratory test
Examined sequence length
19,1 kb (Core-/Core-canditate-Genes)
22,3 kb (Extended panel: incl. additional genes)
22,3 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 |
|---|---|---|---|---|
| ACD | 1647 | NM_001082486.2 | AD, AR | |
| CTC1 | 3654 | NM_025099.6 | AR | |
| DKC1 | 1545 | NM_001363.5 | XLR | |
| NAF1 | 1631 | NM_001128931.2 | AD | |
| NHP2 | 273 | NM_001034833.2 | AR | |
| NOP10 | 195 | NM_018648.4 | AR | |
| RTEL1 | 3732 | NM_032957.5 | AR | |
| TERT | 3399 | NM_198253.3 | AD, AR | |
| TINF2 | 1356 | NM_001099274.3 | AD | |
| WRAP53 | 1647 | NM_001143990.2 | AR | |
| PARN | 1920 | NM_002582.4 | AR | |
| STN1 | 1221 | NM_024928.5 | AR |
Informations about the disease
Clinical Comment
Ectodermal dysplasia syndrome that often presents with the classic triad of nail dysplasia, skin pigmentary changes, oral leukoplakia associated with a high risk of bone marrow failure + cancer
Synonyms
- Allelic: Focal segmental glomerulosclerosis 10 (LMX1B)
- Allelic: Non-immune hydrops fetalis [MONDO] (NIHF)
- BM failure syndrome, type AR; Dyskeratosis cong.; MDS, AML; Oral + GI squamous cell carcinoma (NAF1)
- Cerebroretinal microangiopathy with calcifications + cysts (CTC1)
- Dyskeratosis congenita with bilateral exudative retinopathy, Revesz syndrome (TINF2)
- Dyskeratosis congenita, AD 3 (TINF2)
- Dyskeratosis congenita, AD 4 (RTEL1)
- Dyskeratosis congenita, AD 6 (ACD)
- Dyskeratosis congenita, AR 3 (WRAP53)
- Dyskeratosis congenita, AR 5 (RTEL1)
- Dyskeratosis congenita, AR 6 (PARN)
- Dyskeratosis congenita, AR 7 (ACD)
- Hoyeraal-Hreidarsson syndrome; severe clinical variant (RTEL1, TERT, TINF1)
- Nail disorder, nonsyndromic congenital, 1 (FZD6)
- Nail-patella syndrome (LMX1B)
- Poikiloderma with neutropenia (USB1)
- Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 (RTEL1)
- Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4 (PARN)
- Retinopathy-anemia-central nervous system anomalies syndrome, Revesz-DeBuse (TINF1)
Heredity, heredity patterns etc.
- AD
- AR
- XLR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatics and clinical interpretation
No text defined