Clinical and research tests for 115286 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Nuclear Mitochondrial Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	1	221	D Deletion/duplication analysis S Mutation scanning of the entire coding region
Combined mtDNA+Nuclear Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	12	221	D Deletion/duplication analysis S Mutation scanning of the entire coding region E Sequence analysis of select exons
MVL Vision Panel Molecular Vision Laboratory United States	1358	1028	C Sequence analysis of the entire coding region
SLC25A26 - 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
CentoMito Comprehensive Panel Centogene AG - the Rare Disease Company Germany	406	414	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Ataxia / Spastic Paraplegia Comprehensive Panel Centogene AG - the Rare Disease Company Germany	451	452	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Ataxia / Spastic Paraplegia Panel Centogene AG - the Rare Disease Company Germany	442	443	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
CentoICU Panel Centogene AG - the Rare Disease Company Germany	829	848	C Sequence analysis of the entire coding region
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, part of Exact Sciences United States	292	253	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Combined oxidative phosphorylation deficiency 28, 616794, Autosomal recessive; COXPD28 (Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect) (SLC25A26 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
Combined oxidative phosphorylation deficiency 28, 616794, Autosomal recessive; COXPD28 (Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect) (SLC25A26 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
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
Combined Mito Genome Plus Mito Focused Nuclear Gene Panel GeneDx United States	1	189	D Deletion/duplication analysis C Sequence analysis of the entire coding region
SLC25A26 Institute for Human Genetics University Medical Center Freiburg Germany	1	1	C Sequence analysis of the entire coding region
Nuclear-Encoded Mitochondrial Disorders Panel CGC Genetics Unilabs Portugal	1	306	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
Intellectual Disability Panel CGC Genetics Unilabs Portugal	1	1293	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.