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

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Results: 1 to 17 of 17

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
CentoCancer Comprehensive Centogene AG - the Rare Disease Company Germany	155	107	D Deletion/duplication analysis 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
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
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
Macrocephaly/Overgrowth Syndrome NGS Panel Fulgent Genetics United States	100	38	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Congenital Heart Defect NGS Panel Fulgent Genetics United States	377	114	D Deletion/duplication analysis C Sequence analysis of the entire coding region
COWDEN DISEASE Laboratorio de Genetica Clinica SL Spain	4	9	D Deletion/duplication analysis C Sequence analysis of the entire coding region
PIK3CA Single Gene Fulgent Genetics United States	12	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Clinical Exome Fulgent Genetics United States	5128	4672	D Deletion/duplication analysis C Sequence analysis of the entire coding region
PTEN analysis Cancer Genomic Medicine Translational Research Lab Cleveland Clinic Genomic Medicine Institute United States	11	1	D Deletion/duplication analysis S Mutation scanning of the entire coding region E Sequence analysis of select exons

Results: 1 to 17 of 17

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.

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