Clinical and research tests for C5575066 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Schaaf-yang syndrome testing (MAGEL2) Genetic Services Laboratory University of Chicago United States	2	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
Intellectual Disability Panel Centogene AG - the Rare Disease Company Germany	777	770	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Diabetes and Obesity Panel Centogene AG - the Rare Disease Company Germany	247	262	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Neuromuscular Panel Centogene AG - the Rare Disease Company Germany	325	316	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region T Targeted variant analysis
CentoDysmorph Panel Centogene AG - the Rare Disease Company Germany	740	728	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoICU Panel Centogene AG - the Rare Disease Company Germany	829	848	C Sequence analysis of the entire coding region
Invitae Neurodevelopmental Disorders Panel Invitae United States	404	241	D Deletion/duplication analysis
Invitae Monogenic Obesity Panel Invitae United States	92	68	D Deletion/duplication analysis C Sequence analysis of the entire coding region
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
Schaaf-Yang syndrome, 615547, Autosomal dominant; SHFYNG (Prader-Willi syndrome due to point mutation) (MAGEL2 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
Schaaf-Yang syndrome, 615547, Autosomal dominant; SHFYNG (Prader-Willi syndrome due to point mutation) (MAGEL2 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
Schaaf-Yang syndrome, 615547, Autosomal dominant; SHFYNG (Prader-Willi syndrome due to point mutation) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Schaaf-Yang syndrome, 615547, Autosomal dominant; SHFYNG (Prader-Willi syndrome due to point mutation) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Comprehensive Monogenic Obesity Panel PreventionGenetics, part of Exact Sciences United States	43	52	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Schaaf-Yang Syndrome via the MAGEL2 Gene PreventionGenetics, part of Exact Sciences United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Monogenic Obesity Panel Genetic Services Laboratory University of Chicago United States	17	50	D Deletion/duplication analysis C Sequence analysis of the entire coding region
MAGEL2 Institute for Human Genetics University Medical Center Freiburg Germany	1	1	C Sequence analysis of the entire coding region
Schaaf-Yang syndrome (sequence analysis of MAGEL2 gene) CGC Genetics Unilabs Portugal	1	1	C Sequence analysis of the entire coding region
Monogenic obesity panel. 36-gene NGS panel. Genologica Medica Spain	55	36	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.