Clinical and research tests for 283120 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Russell-Silver Syndrome Genetics Laboratory Shodair Children's Hospital United States	2	2	M Methylation analysis U Uniparental disomy study (UPD)
Beckwith-Wiedemann Syndrome Genetics Laboratory Shodair Children's Hospital United States	1	3	M Methylation analysis U Uniparental disomy study (UPD)
Beckwith-Wiedemann Syndrome (methylation test) Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center, Location AMC Netherlands	2	2	M Methylation analysis
H19 Gene Beckwith-Wiedemann syndrome NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
Tempus xT Tempus Labs, Inc. United States	2	647	I Microsatellite instability testing (MSI) C Sequence analysis of the entire coding region
Beckwith-Wiedemann syndrome, 130650, Autosomal dominant (Beckwith-Wiedemann syndrome) (H19 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
Beckwith-Wiedemann syndrome, 130650, Autosomal dominant (Beckwith-Wiedemann syndrome) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Beckwith-Wiedemann syndrome, 130650, Autosomal dominant (Beckwith-Wiedemann syndrome) (H19 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
Beckwith-Wiedemann syndrome, 130650, Autosomal dominant (Beckwith-Wiedemann syndrome) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Silver-Russell syndrome, 180860, Isolated cases; SRS (Silver-Russell syndrome) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Silver-Russell syndrome, 180860, Isolated cases; SRS (Silver-Russell syndrome) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Silver-Russell syndrome, 180860, Isolated cases; SRS (Silver-Russell syndrome) (H19 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
Silver-Russell syndrome, 180860, Isolated cases; SRS (Silver-Russell syndrome) (H19 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
Wilms tumor 2, 194071, Autosomal dominant, Somatic mutation; WT2 (Nephroblastoma) (H19 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
Wilms tumor 2, 194071, Autosomal dominant, Somatic mutation; WT2 (Nephroblastoma) (H19 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
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
Overgrowth and Macrocephaly Syndromes Panel PreventionGenetics, part of Exact Sciences United States	145	112	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Silver-Russel Syndrome (11p15) Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center, Location AMC Netherlands	1	1	M Methylation analysis
Beckwith-Wiedemann syndrome panel Genologica Medica Spain	20	10	C Sequence analysis of the entire coding region
Beckwith-Wiedemann syndrome panel. NGS panel of 10 genes. Genologica Medica Spain	20	10	C Sequence analysis of the entire coding region

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