Clinical and research tests for C1853116 - Genetic Testing Registry (GTR) - NCBI

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Results: 21 to 40 of 45

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Girdle muscular dystrophy. NGS panel of 39 genes. Genologica Medica Spain	84	39	C Sequence analysis of the entire coding region
Skeletal diseases. NGS panel of 169 genes. Genologica Medica Spain	373	169	C Sequence analysis of the entire coding region
Neuromuscular Panel, Comprehensive CNH Molecular Diagnostics Laboratory Childrens National Hospital United States	138	62	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
Congenital Myopathy NGS Panel Fulgent Genetics United States	186	61	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Late-Onset Ataxia NGS Panel Fulgent Genetics United States	133	56	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Autosomal Recessive Cerebellar Ataxia Type 1 (SYNE1 Single Gene Test) Fulgent Genetics United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Ataxia NGS Panel Fulgent Genetics United States	533	149	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Limb-Girdle Muscular Dystrophy Asper Biogene Asper Biogene LLC Estonia	87	39	C Sequence analysis of the entire coding region
SYNE1-Related Autosomal Recessive Cerebellar Ataxia: gene sequencing CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	1	1	C Sequence analysis of the entire coding region
Ataxia Related Disorders , Panel Massive Sequencing (NGS) 35 Genes Reference Laboratory Genetics Spain	37	34	C Sequence analysis of the entire coding region
CEREBELLAR ATAXIA TYPE 8 (AUTOSOMAL RECESSIVE) Laboratorio de Genetica Clinica SL Spain	1	1	C Sequence analysis of the entire coding region
Neuromuscular Disorders NGS Panel Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States	233	144	C Sequence analysis of the entire coding region
Autosomal Recessive Spinocerebellar Ataxia Type 8 (SCAR8) , Sequencing SYNE1 Gene Reference Laboratory Genetics Spain	1	1	C Sequence analysis of the entire coding region
Ataxia, Comprehensive Evaluation Athena Diagnostics United States	44	42	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Ataxia, Complete Recessive Evaluation Athena Diagnostics United States	21	18	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Ataxia, Supplemental Recessive Evaluation Athena Diagnostics United States	20	17	D Deletion/duplication analysis 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
Spinocerebellar ataxia, autosomal recessive 8 Bioarray Spain	1	1	C Sequence analysis of the entire coding region
Ataxia and differential diagnoses Panel CeGaT GmbH Germany	172	204	C Sequence analysis of the entire coding region

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Results: 21 to 40 of 45

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.