Clinical and research tests for C3553719 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
PFN1 - 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
Amyotrophic Lateral Sclerosis (ALS) / Dementia Panel Centogene AG - the Rare Disease Company Germany	64	66	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Hereditary Amyotrophic Lateral Sclerosis, Frontotemporal Dementia and Alzheimer Disease Panel Invitae United States	72	33	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal Dementia (FTD) Panel PreventionGenetics, part of Exact Sciences United States	48	39	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Amyotrophic Lateral Sclerosis (ALS) Panel PreventionGenetics, part of Exact Sciences United States	36	32	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Amyotrophic lateral sclerosis 18, 614808; ALS18 (Amyotrophic lateral sclerosis) (PFN1 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
Amyotrophic Lateral Sclerosis/Motor Neuron Disease via the PFN1 Gene PreventionGenetics, part of Exact Sciences United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
PFN1 Institute for Human Genetics University Medical Center Freiburg Germany	1	1	C Sequence analysis of the entire coding region
Amyotrophic lateral sclerosis 18 (sequence analysis of PFN1 gene) CGC Genetics Unilabs Portugal	1	1	C Sequence analysis of the entire coding region
Frontotemporal dementia and/or Amyotrophic Lateral Sclerosis: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	30	30	I Microsatellite instability testing (MSI) C Sequence analysis of the entire coding region
Amyotrophic Lateral Sclerosis (NGS Panel and Copy Number Analysis) MNG Laboratories (Medical Neurogenetics, LLC.) United States	25	30	D Deletion/duplication analysis C Sequence analysis of the entire coding region
AMYOTROPHIC LATERAL SCLEROSIS (ALS) (AUTOSOMAL DOMINANT) Laboratorio de Genetica Clinica SL Spain	14	17	C Sequence analysis of the entire coding region T Targeted variant analysis
Amyotrophic Lateral Sclerosis Asper Biogene Asper Biogene LLC Estonia	22	22	C Sequence analysis of the entire coding region
Invitae Amyotrophic Lateral Sclerosis Panel Invitae United States	29	21	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Nonprevalent Amyotrophic Lateral Sclerosis Advanced Sequencing Evaluation Athena Diagnostics United States	24	15	C Sequence analysis of the entire coding region
Amyotrophic Lateral Sclerosis Advanced Evaluation Athena Diagnostics United States	19	17	C Sequence analysis of the entire coding region T Targeted variant analysis
Amyotrophic Lateral Sclerosis Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University United States	11	21	C Sequence analysis of the entire coding region
Single gene testing PFN1 CeGaT GmbH Germany	1	1	C Sequence analysis of the entire coding region
Amyotrophic Lateral Sclerosis (ALS) Panel CeGaT GmbH Germany	29	54	C Sequence analysis of the entire coding region

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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.