Clinical and research tests for C3150417 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Neuromuscular Disorders exome Genetic Services Laboratory University of Chicago United States	116	137	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Neuromuscular Disorders Panel Genetic Services Laboratory University of Chicago United States	116	137	D Deletion/duplication analysis 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
POMGNT1 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	4	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel Labcorp Genetics (formerly Invitae) LabCorp United States	971	680	D Deletion/duplication analysis
Invitae Rhabdomyolysis and Metabolic Myopathy Panel Labcorp Genetics (formerly Invitae) LabCorp United States	202	128	D Deletion/duplication analysis
Early-Onset High Myopia Panel PreventionGenetics, part of Exact Sciences United States	285	137	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Supplemental Metabolic Newborn Screening Panel Labcorp Genetics (formerly Invitae) LabCorp United States	253	189	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Brain Malformations Panel Labcorp Genetics (formerly Invitae) LabCorp United States	247	161	D Deletion/duplication analysis
Limb girdle muscular dystrophy Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	50	35	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Limb girdle muscular dystrophy NGS panel HNL Genomics Connective Tissue Gene Tests United States	50	35	C Sequence analysis of the entire coding region T Targeted variant analysis
Limb girdle muscular dystrophy Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	50	35	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Autism Spectrum Disorders (ASD) Panel PreventionGenetics, part of Exact Sciences United States	224	170	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3, 613157, Autosomal recessive; MDDGC3 (Autosomal recessive limb-girdle muscular dystrophy type 2O) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3, 613157, Autosomal recessive; MDDGC3 (Autosomal recessive limb-girdle muscular dystrophy type 2O) (POMGNT1 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
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3, 613157, Autosomal recessive; MDDGC3 (Autosomal recessive limb-girdle muscular dystrophy type 2O) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3, 613157, Autosomal recessive; MDDGC3 (Autosomal recessive limb-girdle muscular dystrophy type 2O) (POMGNT1 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
NeuromuscularZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine United States	480	254	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
Invitae Comprehensive Carrier Screen Labcorp Genetics (formerly Invitae) LabCorp United States	886	547	D Deletion/duplication analysis 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.