IllnessDyskeratosis congenita, X-chromosomal

Request form illness

Summary

Short information

Curated single gene sequence analysis according to the clinical suspicion of Dyskeratosis congenita, X-linked

DS0270

Number of genes

1 Accredited laboratory test

Examined sequence length

1,6 kb (Core-/Core-canditate-Genes)
- (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
DKC1	1545	300126	NM_001363.5	XLR

Informations about the disease

Clinical Comment

Ectodermal dysplasia syndrome: classic triad of nail dysplasia, skin pigmentary changes + oral leukoplakia with a high risk of bone marrow failure + cancer

Additional symptoms: hepatic fibrosis, premature graying, Osteoporosis, epiphora, dental abnormalities, testicular atrophy

Synonyms

Alias: Zinsser-Engman-Cole syndrome (DKC1)
Allelic: Aplastic anemia (DKC1)
Allelic: Cataracts, hearing impairment, nephrotic syndrome + enterocolitis 1 (DKC1)
Allelic: Pulmonary fibrosis, idiopathic, susceptibility to (DKC1)
Dyskeratosis congenita, XL (DKC1)

Heredity, heredity patterns etc.

OMIM-Ps

127550

ICD10 Code

Bioinformatics and clinical interpretation

No text defined