Clinical and research tests for C3554518 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
CentoCancer Comprehensive Centogene AG - the Rare Disease Company Germany	156	107	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Solid Tumor Panel Centogene AG - the Rare Disease Company Germany	218	135	C Sequence analysis of the entire coding region
PIK3CA - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	14	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Polydactyly and Syndactyly Panel PreventionGenetics, part of Exact Sciences United States	320	231	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Cowden syndrome 5, 615108; CWS5 (Cowden syndrome) (PIK3CA 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
Syndactyly Panel PreventionGenetics, part of Exact Sciences United States	220	128	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Wilms Tumor Panel PreventionGenetics, part of Exact Sciences United States	48	28	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
Cowden and Cowden-like Syndromes via the PIK3CA 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
Cancer Panel PreventionGenetics, part of Exact Sciences United States	122	117	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Vascular malformations panel. 14-gene NGS panel. Genologica Medica Spain	38	14	C Sequence analysis of the entire coding region
Lymphatic malformations and related disorders panel. NGS panel of 11 genes. Genologica Medica Spain	31	11	C Sequence analysis of the entire coding region
Molecular profile of the breast tumor. Panel NGS genes: BRCA1, BRCA2, ERBB2, PIK3CA. Genologica Medica Spain	21	4	C Sequence analysis of the entire coding region
Macrocephaly / overgrowth syndrome panel. 43-gene NGS panel. Genologica Medica Spain	88	43	C Sequence analysis of the entire coding region
Neuronal migration disorder panel. NGS panel of 58 genes. Genologica Medica Spain	110	57	C Sequence analysis of the entire coding region
PIK3CA Institute for Human Genetics University Medical Center Freiburg Germany	13	1	C Sequence analysis of the entire coding region
Cowden disease: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	6	5	C Sequence analysis of the entire coding region
Megalencephaly-Capillary Malformation Syndrome (PIK3CA Single Gene Test) Fulgent Genetics United States	12	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Neuronal Migration Disorders NGS Panel Fulgent Genetics United States	392	83	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Klippel-Trenaunay Syndrome (PIK3CA Single Gene Test) Fulgent Genetics United States	12	1	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.