IllnessSebastian syndrome, differential diagnosis

Summary

Short information

A comprehensive panel for Sebastian syndrome, differential diagnosis, containing 1 guideline-curated core gene and altogeher 17 curated genes accordin to the clinical suspision

SP7223

Number of genes

3 Accredited laboratory test

Examined sequence length

5,9 kb (Core-/Core-canditate-Genes)
16,1 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
MYH9	5883	160775	NM_002473.6	AD
FLNA	7920	300017	NM_001456.4	XL
GNE	2262	603824	NM_001128227.3	AR

Informations about the disease

Synonyms

Alias: Alport syndrome with macrothrombocytopenia (MYH9)
Alias: Bleeding disorder, platelet type, 6; BDPLT6 (MYH9)
Alias: Döhle leukocyte inclusions with giant platelets (MYH9)
Alias: Epstein syndrome (MYH9)
Alias: Fechtner syndrome (MYH9)
Alias: Giant platelet syndrome with thrombocytopenia (MYH9)
Alias: Macrothrombocytopenia and progressive sensorineural deafness (MYH9)
Alias: Macrothrombocytopenia with dispersed leukocyte inclusions (MYH9)
Alias: Macrothrombocytopenia with leukocyte inclusions (MYH9)
Alias: Macrothrombocytopenia, nephritis + deafness (MYH9)
Alias: Macrothrombocytopenia, nephritis, deafness and leukocyte inclusions (MYH9)
Alias: May-Hegglin anomalia (MYH9)
Alias: Sebastian platelet sydrome (MYH9)
Allelic: Cardiac valvular dysplasia, XL (FLNA)
Allelic: Deafness, AD 17 (MYH9)
Allelic: FG syndrome 2 (FLNA)
Allelic: Frontometaphyseal dysplasia 1 (FLNA)
Allelic: Intestinal pseudoobstruction, neuronal (FLNA)
Allelic: Melnick-Needles syndrome (FLNA)
Allelic: Myocardial infarction, susceptibility to (ITGB3)
Allelic: Nonaka myopathy (GNE)
Allelic: Nonarteritic anterior ischemic optic neuropathy, susceptibility to (GP1BA)
Allelic: Otopalatodigital syndrome, type I (FLNA)
Allelic: Otopalatodigital syndrome, type II (FLNA)
Allelic: Seizures, cortical blindness, microcephaly syndrome (DIAPH1)
Allelic: Terminal osseous dysplasia (FLNA)
Allelic: Thrombocytopenia, neonatal alloimmune (ITGB3)
Bernard-Soulier syndrome, type A1, AR (GP1BA)
Bernard-Soulier syndrome, type A2, AD (GP1BA)
Bernard-Soulier syndrome, type B (GP1BB)
Bernard-Soulier syndrome, type C (GP9)
Bleeding disorder, platelet-type, 15 (ACTN1)
Bleeding disorder, platelet-type, 16, AD (ITGA2B)
Bleeding disorder, platelet-type, 20 (SLFN14)
Bleeding disorder, platelet-type, 21 (FLI1)
Bleeding disorder, platelet-type, 24, AD (ITGB3)
Congenital short bowel syndrome (FLNA)
Deafness, AD 1, +/- thrombocytopenia (DIAPH1)
Giant platelet disorder, isolated (GP1BB)
Glanzmann thrombasthenia 1 (ITGA2B)
Glanzmann thrombasthenia 2 (ITGB3)
Gray platelet syndrome (NBEAL2)
Heterotopia, periventricular, 1 (FLNA)
Macrothrombocytopenia + granulocyte inclusions +/- nephritis/sensorineural hearing loss (MYH9)
Macrothrombocytopenia, isolated, 1, AD (TUBB1)
Purpura, posttransfusion (ITGB3)
Sialuria (GNE)
Takenouchi-Kosaki syndrome (CDC42)
Thrombocytopenia 6 (SRC)
Thrombocytopenia, neonatal alloimmune, BAK antigen related (ITGA2B)
von Willebrand disease, platelet-type (GP1BA)

Heredity, heredity patterns etc.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Bioinformatics and clinical interpretation

No text defined