Clinical and research tests for C3553538 - Genetic Testing Registry (GTR) - NCBI

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Results: 21 to 39 of 39

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Invitae Fatty Acid Oxidation Defects Panel Invitae United States	28	25	D Deletion/duplication analysis
Invitae Comprehensive Neuropathies Panel Invitae United States	201	96	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Organic Acidemias Panel Invitae United States	108	97	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Elevated C4 and C5 (Multiple Acyl-CoA Dehydrogenase deficiency) Panel Invitae United States	7	9	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Brown-Vialetto-Van Laere Syndrome 2 and Fazio-Londe Disease (Progressive Bulbar Palsy with or without Sensorineural Deafness) via the SLC52A2 Gene PreventionGenetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
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
Optic atrophy. NGS panel of 13 genes. Genologica Medica Spain	29	13	C Sequence analysis of the entire coding region
Amyotrophic lateral sclerosis panel. 32-gene NGS panel. Genologica Medica Spain	66	32	C Sequence analysis of the entire coding region
Optic atrophy panel. NGS panel of 19 genes. Genologica Medica Spain	38	19	C Sequence analysis of the entire coding region
Fatty Acid Oxidation Disorders Panel, Sequencing ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories United States	23	25	C Sequence analysis of the entire coding region
SLC52A2 Deletion/duplication analysis Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States	1	1	D Deletion/duplication analysis
Riboflavin Disorders Gene Sequencing Panel Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States	3	5	C Sequence analysis of the entire coding region
Brown-Vialetto-Van Laere syndrome: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	2	2	C Sequence analysis of the entire coding region
BROWN-VIALETTO-VAN LAERE SYNDROME Laboratorio de Genetica Clinica SL Spain	2	2	C Sequence analysis of the entire coding region
Hearing Loss NGS Panel Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States	198	157	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
SLC52A2 MGZ Medical Genetics Center Germany	1	1	C Sequence analysis of the entire coding region
Metaboseq Gene Sequencing Panel Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States	57	55	C Sequence analysis of the entire coding region

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Results: 21 to 39 of 39

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.