Clinical and research tests for 615705 - Genetic Testing Registry (GTR)

Results: 1 to 10 of 10

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Spinocerebellar ataxia, autosomal recessive 15, 615705, Autosomal recessive (Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to KIAA0226 deficiency) (RUBCN gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
Spinocerebellar ataxia, autosomal recessive 15, 615705, Autosomal recessive (Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to KIAA0226 deficiency) (RUBCN gene) (Sequence Analysis-All Coding Exons) (Prenatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
RUBCN - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoNeuro Panel Centogene AG - the Rare Disease Company Germany	1886	1858	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Ataxia / Spastic Paraplegia Comprehensive Panel Centogene AG - the Rare Disease Company Germany	451	452	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Ataxia / Spastic Paraplegia Panel Centogene AG - the Rare Disease Company Germany	442	443	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Ataxia Exome Genetic Services Laboratory University of Chicago United States	289	481	C Sequence analysis of the entire coding region
Ataxia panel. NGS panel of 157 genes. Genologica Medica Spain	247	156	C Sequence analysis of the entire coding region
Spinocerebellar ataxia, autosomal recessive: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	23	23	C Sequence analysis of the entire coding region
Hereditary Ataxia Asper Biogene Asper Biogene LLC Estonia	180	139	C Sequence analysis of the entire coding region

Results: 1 to 10 of 10

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Results: 1 to 10 of 10

Results: 1 to 10 of 10