Clinical and research tests for 84188 - Genetic Testing Registry (GTR) - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

<< First< Prev

Page 1 of 3

Results: 1 to 20 of 45

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Spastic Paraplegia Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	2	128	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel Labcorp Genetics (formerly Invitae) LabCorp United States	971	680	D Deletion/duplication analysis
Invitae Skeletal Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	624	349	D Deletion/duplication analysis
Chondrodysplasia punctata and related disorders NGS panel HNL Genomics Connective Tissue Gene Tests United States	1	10	C Sequence analysis of the entire coding region T Targeted variant analysis
Chondrodysplasia punctata and related disorders Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	1	10	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Chondrodysplasia punctata and related disorders Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	1	10	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Lysosomal Storage Disorders Panel PreventionGenetics, part of Exact Sciences United States	242	146	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Peroxisomal fatty acyl-CoA reductase 1 disorder, 616154, Autosomal recessive; PFCRD (Severe intellectual disability-epilepsy-cataract syndrome due to fatty acyl-CoA reductase 1 deficiency) (FAR1 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
Peroxisomal fatty acyl-CoA reductase 1 disorder, 616154, Autosomal recessive; PFCRD (Severe intellectual disability-epilepsy-cataract syndrome due to fatty acyl-CoA reductase 1 deficiency) (FAR1 gene) (Sequence Analysis-All Coding Exons) (Prenatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	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
Genomic Unity Epilepsy Analysis (includes STR analysis of 6 loci) Variantyx, Inc. United States	1	378	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region
Chondrodysplasia punctata and related disorders NGS panel HNL Genomics Connective Tissue Gene Tests United States	1	10	C Sequence analysis of the entire coding region T Targeted variant analysis
Chondrodysplasia punctata and related disorders Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	1	10	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Chondrodysplasia punctata and related disorders Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	1	10	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Epilepsy Panel Labcorp Genetics (formerly Invitae) LabCorp United States	466	297	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Skeletal Disorders Panel Baylor Genetics United States	1	354	C Sequence analysis of the entire coding region
Comprehensive Epilepsy MNG Laboratories (Medical Neurogenetics, LLC.) United States	414	800	C Sequence analysis of the entire coding region
Metabolic Diseases Panel CGC Genetics Unilabs Portugal	1	837	C Sequence analysis of the entire coding region
Movement diseases (WES based NGS panel of 931 genes, including CNV analysis) CGC Genetics Unilabs Portugal	10	930	C Sequence analysis of the entire coding region
Epilepsy panel_v.2.0 CGC Genetics Unilabs Portugal	1	759	C Sequence analysis of the entire coding region

<< First< Prev

Page 1 of 3

Results: 1 to 20 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.