IllnessARSACS, differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for AR spastic ataxia, Charlevoix-Saguenay type, containing 3 guideline-curated genes and altogether 7 curated genes according to the clinical signs

AP9223

Number of genes

7 Accredited laboratory test

Examined sequence length

16,8 kb (Core-/Core-canditate-Genes)
27,4 kb (Extended panel: incl. additional genes)

Analysis Duration

on request

Material

EDTA-anticoagulated blood (3-5 ml)

Diagnostic indications

NGS + X

Gene panel

Selected genes

Name	Exon Length (bp)	OMIM-G	Referenz-Seq.	Heredity
FXN	633	606829	NM_000144.5	AR
SACS	13740	604490	NM_014363.6	AR
SPG7	2388	602783	NM_003119.4	AR, AD
KIF1A	5073	601255	NM_004321.8	AR
MTTP	2685	157147	NM_000253.4	AR
SPART	2001	607111	NM_015087.5	AR
TTPA	837	600415	NM_000370.3	AR

Informations about the disease

Synonyms

Spastic ataxia, Charlevoix-Saguenay type (SACS)
Alias: AR Spastic Ataxia Type 6 (SACS)
Alias: AR Spastic Ataxia of Charlevoix-Saguenay (SACS)
Allelic: Neuropathy, hereditary sensory, type IIC (KIF1A)
Abetalipoproteinemia (MTTP)
Allelic: Metabolic syndrome, protection against (MTTP)
Ataxia with isolated vitamin E deficiency (TTPA)
Friedreich ataxia (FXN)
Friedreich ataxia with retained reflexes (FXN)
NESCAV syndrome (KIF1A)
Spastic paraplegia 30, AD (KIF1A)
Spastic paraplegia 30, AR (KIF1A)
Spastic paraplegia 7, AR (SPG7)
Troyer syndrome (SPART)

Heredity, heredity patterns etc.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Bioinformatics and clinical interpretation

No text defined