IllnessThrombozytopenia-Absent radius syndrome, differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Thrombozytopenia-Absent radius syndrome comprising 1 or altogether 7 curated genes according to the clinical signs

TP5554

Number of loci

Loci type	Count
Gen	7

Accredited laboratory test

Examined sequence length

0,6 kb (Core-/Core-canditate-Genes)
20,5 kb (Extended panel: incl. additional genes)

Analysis Duration

on request

Test material

EDTA-anticoagulated blood (3-5 ml)

Diagnostic indications

NGS +

Loci panel

Gen

Name	Exon Length (bp)	OMIM-G	Referenz-Seq.	Heredity
RBM8A	525	605313	NM_005105.5	AR
ANAPC1	5835	608473	NM_022662.4	AR
ESCO2	1806	609353	NM_001017420.3	AR
RECQL4	3628	603780	NM_004260.4	AR
SALL1	3975	602218	NM_002968.3	AD
SALL4	3162	607343	NM_020436.5	AD
TBX5	1557	601620	NM_000192.3	AD

Informations about the disease

Clinical Comment

illness_ClinicalComment_TP5554

Synonyms

Alias. Radial aplasia-thrombocytopenia syndrome
Alias: Chromosome 1q21.1 deletion syndrome, 200-KB
Alias: Radial aplasia-amegakaryocytic thrombocytopenia
Alias: TAR-Syndrom [Thrombocytopenia Absent Radii syndrome]
Baller-Gerold syndrome (RECQL4)
Duane-radial ray syndrome (SALL4)
Holt-Oram syndrome (TBX5)
IVIC syndrome (SALL4)
Juberg-Hayward syndrome (ESCO2)
RAPADILINO syndrome (RECQL4)
Roberts-SC phocomelia syndrome (ESCO2)
Rothmund-Thomson syndrome, type 1 (ANAPC1)
Rothmund-Thomson syndrome, type 2 (RECQL4)
Thrombocytopenia-absent radius syndrome (RBM8A)
Townes-Brocks branchiootorenal-like syndrome (SALL1)
Townes-Brocks syndrome 1 (SALL1)

Heredity, heredity patterns etc.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Bioinformatics and clinical interpretation

No text defined