IllnessLeukaemia, chronic myeloid; hereditary

Request form illness

Summary

Short information

Two curated single gene sequence analyses according to the clinical suspicion Leukaemia, hereditary chronic myeloid

LP0234

Number of genes

3 Accredited laboratory test

Examined sequence length

5,4 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
ABL1	3450	189980	NM_007313.2	SMu
BCR-ABL	0	No OMIM-Gs linked		AD
DDX41	1935	616871	NM_016222.4	AD

Informations about the disease

Clinical Comment

The most common myeloproliferative disorder (15-20% of all leukaemia cases); Philadelphia chromosome, translocation chromosomes 9 + 22 (t(9;22)(q34;q11.2)); BCR/ABL gene fusion

Synonyms

Alias: CML
Allelic: Congenital heart defects + skeletal malformations syndrome (ABL1)
Leukemia, Philadelphia chromosome-positive, resistant to imatinib (ABL1)
Myeloproliferative/lymphoproliferative neoplasms, familial, multiple types, susceptibility (DDX41)
[panelapp] Famil. predisp. to leukemia, DDX41-relat. AML, AML, MDS (late onset), CML others (DDX4L)

Heredity, heredity patterns etc.

OMIM-Ps

ICD10 Code

Bioinformatics and clinical interpretation

No text defined