IllnessPolycythaemia vera, familial hereditary; differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Polycythaemia vera containing 8 guideline-curated genes and altogether 13 curated genes according to the clinical signs

PP9483

Number of genes

11 Accredited laboratory test

Examined sequence length

8,8 kb (Core-/Core-canditate-Genes)
13,9 kb (Extended panel: incl. additional genes)

Analysis Duration

on request

Material

EDTA-anticoagulated blood (3-5 ml)

Diagnostic indications

NGS +

[Sanger]

Gene panel

Selected genes

Name	Exon Length (bp)	OMIM-G	Referenz-Seq.	Heredity
BPGM	780	613896	NM_199186.3	AD, AR
EGLN1	1281	606425	NM_022051.3	AD
EPAS1	2613	603349	NM_001430.5	AD
EPO	582	133170	NM_000799.4	AD
EPOR	1527	133171	NM_000121.4	AD
HBA1	429	141800	NM_000558.5	AD
HBA2	429	141850	NM_000517.6	AD
HBB	444	141900	NM_000518.5	AD
VHL	642	608537	NM_000551.4	AR
JAK2	3399	147796	NM_004972.4	SMu
SH2B3	1728	605093	NM_005475.3	SMu

Informations about the disease

Clinical Comment

Acquired myeloproliferative disorder with elevated absolute red blood cell mass caused by uncontrolled red blood cell production, frequently associated with uncontrolled white blood cell + platelet production

Synonyms

Alias: Familial erythrocytosis
Alias: Hereditary erythrocytosis
Alias: Polycythemia vera
Allelic: Budd-Chiari syndrome, somatic (JAK2)
Allelic: Delta-beta thalassemia (HBB)
Allelic: Diamond-Blackfan anemia-like (EPO)
Allelic: Heinz body anemia (HBB)
Allelic: Heinz body anemias, alpha- (HBA1, HBA2)
Allelic: Hemangioblastoma, cerebellar, somatic (VHL)
Allelic: Hemoglobin H disease, nondeletional (HBA1, HBA2)
Allelic: Hemoglobin, high altitude adaptation (EGLN1)
Allelic: Hereditary persistence of fetal hemoglobin (HBB)
Allelic: Leukemia, acute myeloid, somatic (JAK2)
Allelic: Malaria, resistance to (HBB)
Allelic: Methemoglobinemia, alpha type (HBA1)
Allelic: Methemoglobinemia, beta type (HBB)
Allelic: Microvascular complications of diabetes 2 (EPO)
Allelic: Myelofibrosis, somatic (JAK2)
Allelic: Myelofibrosis, somatic (SH2B3)
Allelic: Pheochromocytoma (VHL)
Allelic: Renal cell carcinoma, somatic (VHL)
Allelic: Sickle cell anemia (HBB)
Allelic: Thalassemia, beta (HBB)
Allelic: Thalassemia-beta, dominant inclusion-body (HBB)
Allelic: Thalassemias, alpha- (HBA1, HBA2)
Allelic: Thrombocythemia 3 (JAK2)
Allelic: Thrombocythemia, somatic (SH2B3)
Allelic: von Hippel-Lindau syndrome (VHL)
2,3-DPG-Mutase-Defizienz (BPGM)
Dehydrated hereditary stomatocytosis +/- pseudohyperkalemia and/or perinatal edema (PIEZO1)
Erythrocytosis 6 (HBB)
Erythrocytosis 7 (HBA1, HBA2)
Erythrocytosis, familial, 1 (EPOR)
Erythrocytosis, familial, 2 (VHL)
Erythrocytosis, familial, 3 (EGLN1)
Erythrocytosis, familial, 4 (EPAS1)
Erythrocytosis, familial, 5 (EPO)
Erythrocytosis, familial, 8 (BPGM)
Erythrocytosis, somatic (JAK2)
Erythrocytosis, somatic (SH2B3)
Hypermanganesemia with dystonia 1 (SLC30A10)
Lymphatic malformation 6 (PIEZO1)
Polycythemia vera, somatic (JAK2)

Heredity, heredity patterns etc.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Bioinformatics and clinical interpretation

No text defined