Clinical and research tests for C0574084 - Genetic Testing Registry (GTR) - NCBI

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

<< First< Prev

Page 1 of 5

Results: 1 to 20 of 83

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Mitochondrial Genome Sequencing and Depletion/Integrity Panel Molecular Genetics Laboratory London Health Sciences Centre Canada	47	52	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
OPA3 - NGS including CNV analysis Centogene US, LLC - The Rare Disease Company United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
OPA3 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel Invitae United States	971	680	D Deletion/duplication analysis
Invitae Rhabdomyolysis and Metabolic Myopathy Panel Invitae United States	202	128	D Deletion/duplication analysis
Invitae Nuclear Mitochondrial Disorders Panel Invitae United States	394	319	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Mitochondrial Disorders Panel (Nuclear Genes Only) PreventionGenetics United States	290	251	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
3-methylglutaconic aciduria, type III, 258501, Autosomal recessive; MGCA3 (3-methylglutaconic aciduria type 3) (OPA3 gene) (Sequence Analysis-All Coding Exons) (Prenatal) Intergen Genetic Diagnosis and Research Centre Turkey	1	1	C Sequence analysis of the entire coding region
3-methylglutaconic aciduria, type III, 258501, Autosomal recessive; MGCA3 (3-methylglutaconic aciduria type 3) (OPA3 gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Genetic Diagnosis and Research Centre Turkey	1	1	C Sequence analysis of the entire coding region
Invitae Inherited Retinal Disorders Panel Invitae United States	486	293	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Comprehensive Carrier Screen without X-linked Disorders Invitae United States	228	279	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Comprehensive Carrier Screen Invitae United States	247	301	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Costeff Optic Atrophy Syndrome Myriad Genetics, Inc. United States	1	1	C Sequence analysis of the entire coding region
OPA3 - 3-Methylglutaconic aciduria Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	1	1	C Sequence analysis of the entire coding region
Anterior Segment Dysgenesis Disorders Panel PreventionGenetics United States	270	276	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Panel PreventionGenetics United States	106	83	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Metabolic Newborn Screening Confirmation Panel Invitae United States	201	158	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Elevated C5-OH Panel Invitae United States	17	15	D Deletion/duplication analysis
Invitae Organic Acidemias Panel Invitae United States	108	97	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Comprehensive Neuromuscular Disorders Panel Invitae United States	353	208	D Deletion/duplication analysis

<< First< Prev

Page 1 of 5

Results: 1 to 20 of 83

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.