Clinical and research tests for C0338508 - Genetic Testing Registry (GTR)

<< First< Prev

Page 1 of 5

Results: 1 to 20 of 92

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
OPA1 gene mutation analysis Genetics and Molecular Pathology SA Pathology Australia	5	1	E Sequence analysis of select exons C Sequence analysis of the entire coding region
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
MVL Vision Panel Molecular Vision Laboratory United States	1358	1028	C Sequence analysis of the entire coding region
OPA1 - NGS including CNV analysis Centogene US, LLC - The Rare Disease Company United States	5	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
OPA1 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	5	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
Early-Onset High Myopia Panel PreventionGenetics United States	285	137	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Nuclear Mitochondrial Disorders Panel Invitae United States	394	319	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Comprehensive Deafness Panel Invitae United States	405	219	D Deletion/duplication analysis
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
Optic atrophy 1, 165500, Autosomal dominant; OPA1 (Autosomal dominant optic atrophy, classic form) (OPA1 gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Genetic Diagnosis and Research Centre Turkey	1	1	C Sequence analysis of the entire coding region
Optic atrophy 1, 165500, Autosomal dominant; OPA1 (Autosomal dominant optic atrophy, classic form) (MLPA) Intergen Genetic Diagnosis and Research Centre Turkey	1	1	D Deletion/duplication analysis
Invitae Inherited Retinal Disorders Panel Invitae United States	486	293	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hereditary Hearing Loss and Deafness Panel PreventionGenetics United States	356	211	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
OPA1 - Optic atrophy 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
Chronic Progressive External Ophthalmoplegia (CPEO/PEO) Panel PreventionGenetics United States	30	13	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
MVL Vision Panel Molecular Vision Laboratory United States	342	268	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

Next >Last >>

Results: 1 to 20 of 92

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.

Filters

Test type

Test purpose

Test method

Molecular Genetics

Test service

Laboratory certification

Specimen type

Laboratory location

Other countries

Results: 1 to 20 of 92

Results: 1 to 20 of 92