Clinical and research tests for C4014545 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Myeloid Tumor Panel Centogene AG - the Rare Disease Company Germany	74	34	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
Invitae Neurodevelopmental Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	404	241	D Deletion/duplication analysis
Invitae Microcephalic Primordial Dwarfism and Seckel Syndrome Panel Labcorp Genetics (formerly Invitae) LabCorp United States	48	38	D Deletion/duplication analysis
Invitae Skeletal Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	624	349	D Deletion/duplication analysis
Invitae Overgrowth Syndromes Panel Labcorp Genetics (formerly Invitae) LabCorp United States	96	53	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Inherited Bone Marrow Failure Panel PreventionGenetics, part of Exact Sciences United States	266	186	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
Tatton-Brown-Rahman syndrome, 615879, Autosomal dominant; TBRS (Tall stature-intellectual disability-facial dysmorphism syndrome) (DNMT3A 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
Tatton-Brown-Rahman syndrome, 615879, Autosomal dominant; TBRS (Tall stature-intellectual disability-facial dysmorphism syndrome) (DNMT3A 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
Top 99 Genetic Causes of Developmental Delay Panel PreventionGenetics, part of Exact Sciences United States	170	99	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
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
Overgrowth syndrome Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	12	11	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Overgrowth syndrome Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	12	11	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Overgrowth syndrome NGS panel HNL Genomics Connective Tissue Gene Tests United States	12	11	C Sequence analysis of the entire coding region T Targeted variant analysis
Macrocephaly Panel Genetic Services Laboratory University of Chicago United States	26	68	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Myeloid neoplasm, somatic (sequence analysis of DNMT3A gene) CGC Genetics Unilabs Portugal	2	1	C Sequence analysis of the entire coding region
Myeloproliferative / myelodysplastic syndrome [detection of somatic mutations: JAK2 (V617F and exon 12), CALR (exon 9) , MPL (exon 10), ASXL1 (exon 13), CBL (exons 8 and 9), CSF3R (exons 14 – 17), DNMT3A (whole coding region), ETNK1 (exon 3), EZH2 (whole CGC Genetics Unilabs Portugal	3	15	E Sequence analysis of select exons
Macrocephaly / overgrowth syndrome panel. 43-gene NGS panel. Genologica Medica Spain	88	43	C Sequence analysis of the entire coding region

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