IllnessPolycythemia/paraganglioma/pheochromocytoma, differential diagnosis

Summary

Short information

A comprehensive differential diagnostic panel for Polycythemia/paraganglioma/pheochromocytoma containing 1 core candidate gene and altogether 9 curated genes according to the clinical symptoms

PP5001

Number of genes

1 Accredited laboratory test

Examined sequence length

0,0 kb (Core-/Core-canditate-Genes)
5,4 kb (Extended panel: incl. additional genes)

Analysis Duration

on request

Test material

EDTA-anticoagulated blood (3-5 ml)

Diagnostic indications

NGS +

Gene panel

Selected genes

Name	Exon Length (bp)	OMIM-G	Referenz-Seq.	Heredity
KIF1B	5313	605995	NM_015074.3	AD

Informations about the disease

Synonyms

Alias: Carotid body tumors
Alias: Chemodectomas
Alias: Glomus jugulare tumors
Alias: Glomus tumors, familial
Alias: Paragangliomas, carotid body
Alias: Paragangliomas, familial non-chromaffin
Allelic: Acute myeloid leukemia, somatic (DNMT3A)
Allelic: Developmental + epileptic encephalopathy 51 (MDH2)
Allelic: Glioma, susceptibility to, somatic (IDH)
Allelic: Hemoglobin, high altitude adaptation (EGLN1)
Allelic: Heyn-Sproul-Jackson syndrome (DNMT3A)
Allelic: Leiomyomatosis + renal cell cancer (FH)
Allelic: Maffucci syndrome (IDH1)
Allelic: Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (IDH1)
Allelic: Neuroblastoma, susceptibility to, 1 (KIF1B)
Allelic: Ollier disease/dyschondroplasia (IDH1)
Allelic: Tatton-Brown-Rahman syndrome (DNMT3A)
Charcot-Marie-Tooth disease, type 2A1 (KIF1B)
Erythrocytosis, familial, 3 (EGLN1)
Erythrocytosis, familial, 4 (EPAS1)
Familial erythrocytosis [panelapp] (EGLN2)
Fumarase deficiency (FH)
Paragangliomas 6 (SLC25A11)
Pheochromocytoma (KIF1B)

Heredity, heredity patterns etc.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Bioinformatics and clinical interpretation

No text defined