Clinical and research tests for 80208 - Genetic Testing Registry (GTR) - NCBI

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Results: 21 to 40 of 146

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Invitae Cerebral Palsy Spectrum Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	638	419	D Deletion/duplication analysis
Amyotrophic lateral sclerosis and related disorders NGS panel HNL Genomics Connective Tissue Gene Tests United States	1	24	C Sequence analysis of the entire coding region T Targeted variant analysis
Amyotrophic lateral sclerosis and related disorders Deletion/ Duplication panel HNL Genomics Connective Tissue Gene Tests United States	1	24	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Amyotrophic lateral sclerosis and related disorders Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	1	24	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Complex Hereditary Spastic Paraplegia Panel PreventionGenetics, part of Exact Sciences United States	72	87	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Hereditary Spastic Paraplegia Comprehensive Panel PreventionGenetics, part of Exact Sciences United States	87	106	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Pure Hereditary Spastic Paraplegia Panel PreventionGenetics, part of Exact Sciences United States	31	36	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal Dementia (FTD) Panel PreventionGenetics, part of Exact Sciences United States	45	38	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	32	29	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Amyotrophic lateral sclerosis 5, juvenile, 602099, Autosomal recessive (Juvenile amyotrophic lateral sclerosis) (SPG11 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 5, juvenile, 602099, Autosomal recessive (Juvenile amyotrophic lateral sclerosis) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Charcot-Marie-Tooth disease, axonal, type 2X, 616668, Autosomal recessive; CMT2X (Autosomal recessive Charcot Marie Tooth disease type 2X) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Charcot-Marie-Tooth disease, axonal, type 2X, 616668, Autosomal recessive; CMT2X (Autosomal recessive Charcot Marie Tooth disease type 2X) (SPG11 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
Spastic paraplegia 11, autosomal recessive, 604360, Autosomal recessive; SPG11 (Autosomal recessive spastic paraplegia type 11) (SPG11 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
Spastic paraplegia 11, autosomal recessive, 604360, Autosomal recessive; SPG11 (Autosomal recessive spastic paraplegia type 11) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Genomic Unity Motor Neuron Disorders Analysis (includes AR, C9ORF72 STR analysis) Variantyx, Inc. United States	14	118	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region
NeuromuscularZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine United States	480	254	C Sequence analysis of the entire coding region
qGenEx Intellectual disability Quantitative Genomic Medicine Laboratories, SL Spain	3	1969	S Mutation scanning of the entire coding region C Sequence analysis of the entire coding region
Invitae Mendelian Disorders with Psychiatric Symptoms Panel Labcorp Genetics (formerly Invitae) LabCorp United States	247	163	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Comprehensive Carrier Screen Labcorp Genetics (formerly Invitae) LabCorp United States	886	547	D Deletion/duplication analysis 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.