IllnessInfantile-Onset Spinocerebellar Ataxia; differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Infantile-Onset Spinocerebellar Ataxia containing 1 core gene and altogether 4 curated genes according to the clinical signs

SP1772

Number of genes

4 Accredited laboratory test

Examined sequence length

2,1 kb (Core-/Core-canditate-Genes)
15,6 kb (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
TWNK	2055	606075	NM_021830.5	AD, AR
ATM	9171	607585	NM_000051.4	AR
FXN	633	606829	NM_000144.5	AR
POLG	3720	174763	NM_002693.3	AR, AD

Informations about the disease

Synonyms

Alias: Infantile-Onset Spinocerebellar Ataxia, IOSCA
Alias: OHAHA syndrome - Ophthalmoplegia, Hypotonia, Ataxia, Hypacusis, Athetosis (TWNK)
Alias: Spinocerebellar ataxia, infantile + sensory neuropathy (TWNK)
Allelic: Breast cancer, susceptibility to (ATM)
Allelic: Lymphoma, B-cell non-Hodgkin, somatic (ATM)
Allelic: Lymphoma, mantle cell, somatic (ATM)
Allelic: Mitochondrial DNA depletion syndrome 4A [Alpers type] (POLG)
Allelic: Mitochondrial DNA depletion syndrome 4B [MNGIE type] (POLG)
Allelic: Perrault syndrome 5 (TWNK)
Allelic: Progressive external ophthalmoplegia with mitochondrial DNA deletions, AD 3 (TWNK)
Allelic: Progressive external ophthalmoplegia, AD 1 (POLG)
Allelic: Progressive external ophthalmoplegia, AR 1 (POLG)
Allelic: T-cell prolymphocytic leukemia, somatic (ATM)
Ataxia-telangiectasia (ATM)
Friedreich ataxia (FXN)
Friedreich ataxia with retained reflexes (FXN)
Mitochondrial DNA depletion syndrome 7, hepatocerebral type (TWNK)
Mitochondrial recessive ataxia syndrome [includes SANDO + SCAE] (POLG)
Spinocerebellar ataxia, AR [panelapp] (TWNK)

Heredity, heredity patterns etc.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Bioinformatics and clinical interpretation

No text defined