Clinical and research tests for C1834846 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
MVL Vision Panel Molecular Vision Laboratory United States	1358	1028	C Sequence analysis of the entire coding region
POLG - 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
POLG - 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
Invitae Cholestasis Panel Invitae United States	210	134	D Deletion/duplication analysis
Invitae Neurodevelopmental Disorders Panel Invitae United States	404	241	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
Invitae Comprehensive Neurometabolic Disorders Panel Invitae United States	351	249	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Cerebral Palsy Spectrum Disorders Panel Invitae United States	646	420	D Deletion/duplication analysis
Cholestasis Panel PreventionGenetics United States	130	69	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant 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
Progressive external ophthalmoplegia, autosomal dominant 1, 157640, Autosomal dominant (Autosomal dominant progressive external ophthalmoplegia) (POLG gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Genetic Diagnosis and Research Centre Turkey	1	1	C Sequence analysis of the entire coding region
Progressive external ophthalmoplegia, autosomal dominant 1, 157640, Autosomal dominant (Autosomal dominant progressive external ophthalmoplegia) (MLPA) Intergen Genetic Diagnosis and Research Centre Turkey	1	1	D Deletion/duplication analysis
Invitae Mendelian Disorders with Psychiatric Symptoms Panel Invitae United States	247	163	D Deletion/duplication analysis C Sequence analysis of the entire coding region
POLG - Mitochondrial DNA depletion syndrome Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	5	1	C Sequence analysis of the entire coding region
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
Leigh and Leigh-Like Syndrome Panel (Nuclear Genes Only) PreventionGenetics United States	41	63	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Comprehensive Glycogen Storage Disease Panel Invitae United States	37	28	D Deletion/duplication analysis C Sequence analysis of the entire coding region
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

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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.