Clinical and research tests for 613769 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Retinitis pigmentosa 44, 613769; RP44 (Retinitis pigmentosa) (RGR 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
MVL Vision Panel Molecular Vision Laboratory United States	1358	1028	C Sequence analysis of the entire coding region
RGR - 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
CentoVision Panel Centogene AG - the Rare Disease Company Germany	417	413	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Inherited Retinal Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	486	293	D Deletion/duplication analysis C Sequence analysis of the entire coding region
mtDNA - mitochondriopathy (deafness) Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	2	1	C Sequence analysis of the entire coding region
mtDNA - mitochondriopathy (Leigh) Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	1	1	C Sequence analysis of the entire coding region
mtDNA - mitochondriopathy (myopathy) Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	2	1	C Sequence analysis of the entire coding region
mtDNA - mitochondriopathy (MELAS) Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	1	1	C Sequence analysis of the entire coding region
mtDNA - mitochondriopathy (cardiomyopathy) Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	1	1	C Sequence analysis of the entire coding region
mtDNA - mitochondriopathy (diabetes mellitus) Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	2	1	C Sequence analysis of the entire coding region
mtDNA - mitochondriopathy (ptosis) Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	1	1	C Sequence analysis of the entire coding region
mtDNA - mitochondriopathy (Leber) Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	1	1	C Sequence analysis of the entire coding region
mtDNA - mitochondriopathy (MERRF) Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	1	1	C Sequence analysis of the entire coding region
mtDNA - mitochondriopathy (gastrointestinopathy) Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	1	1	C Sequence analysis of the entire coding region
mtDNA - mitochondriopathy (Kearns-Sayre) Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	1	1	C Sequence analysis of the entire coding region
mtDNA - mitochondriopathy (NARP) Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	1	1	C Sequence analysis of the entire coding region
mtDNA - mitochondriopathy (Pearson) Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	1	1	C Sequence analysis of the entire coding region
mtDNA - mitochondriopathy (encephalopathy) Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	1	1	C Sequence analysis of the entire coding region
MVL Vision Panel Molecular Vision Laboratory United States	342	268	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.