IllnessRetinoblastoma

Request form illness

Summary

Short information

Guideline-curated single gene sequence analysis according to the clinical suspicion Retinoblastoma

RS0150

Number of genes

1 Accredited laboratory test

Examined sequence length

2,8 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
RB1	2787	614041	NM_000321.3	AD

Informations about the disease

Clinical Comment

Most common eye tumor + intraocular malignancy in children; life threatening neoplasia, potentially curable, can be hereditary or non hereditary, unilateral orbilateral

Synonyms

Alias: Glioma, retinal (RB1)
Alias: Hereditary retinoblastoma (RB1)
Alias: Retinoblastom, familiäres (RB1)
Allelic: Bladder cancer, somatic (RB1)
Allelic: Osteosarcoma, somatic (RB1)
Allelic: Small cell cancer of the lung, somatic (RB1)
Retinoblastoma (RB1)
Retinoblastoma, trilateral (RB1)

Heredity, heredity patterns etc.

OMIM-Ps

614041

ICD10 Code

Bioinformatics and clinical interpretation

No text defined