Clinical and research tests for 612051 - Genetic Testing Registry (GTR)

Results: 1 to 20 of 20

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
THAP1 MLPA Institute for Human Genetics University Medical Center Freiburg Germany	1	1	D Deletion/duplication analysis
BEAN1 - Repeat expansion analysis Centogene AG - the Rare Disease Company Germany	1	1	T Targeted variant analysis
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 Repeat Expansion Panel Centogene AG - the Rare Disease Company Germany	13	13	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 Mendelics Brazil	1	81	C Sequence analysis of the entire coding region
SPINOCEREBELLAR ATAXIAS EXOME PANEL Laboratorio de Genetica Clinica SL Spain	1	50	E Sequence analysis of select exons
HEREDITARY ATAXIAS EXOME PANEL Laboratorio de Genetica Clinica SL Spain	1	1202	E Sequence analysis of select exons
Hereditary ataxias. NGS panel of 139 genes. Genologica Medica Spain	220	139	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
CoGenesis@Neuro Codex Genetics Limited Hong Kong	1	490	T Targeted variant analysis
Genomic Unity® Custom Analysis Variantyx, Inc. United States	1	4054	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region
Spinocerebellar ataxia: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	38	37	I Microsatellite instability testing (MSI) C Sequence analysis of the entire coding region
Ataxia Repeat Expansion Analysis Fulgent Genetics United States	19	15	T Targeted variant analysis
BEAN1 (Spinocerebellar Ataxia 31) Repeat Expansion Fulgent Genetics United States	1	1	T Targeted variant analysis
Ataxia Panel Blueprint Genetics Finland	2	157	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Ataxia, autosomal dominant and X-linked Panel CeGaT GmbH Germany	12	34	C Sequence analysis of the entire coding region
Ataxia and differential diagnoses Panel CeGaT GmbH Germany	173	204	C Sequence analysis of the entire coding region
BEAN1 Single Gene Fulgent Genetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Clinical Exome Fulgent Genetics United States	5129	4672	D Deletion/duplication analysis C Sequence analysis of the entire coding region

Results: 1 to 20 of 20

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

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Results: 1 to 20 of 20

Results: 1 to 20 of 20