Clinical and research tests for C0206141 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Invitae Common Hereditary Cancers + RNA Panel Invitae United States	114	47	D Deletion/duplication analysis
Congenital Anomalies of the Gastrointestinal Tract Panel PreventionGenetics, part of Exact Sciences United States	297	180	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Hypereosinophilic syndrome, idiopathic, resistant to imatinib, 607685, Isolated cases, Somatic mutation; HES (Idiopathic hypereosinophilic syndrome) (PDGFRA 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
Invitae Genetic Health Screen Invitae United States	409	164	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Cancer Screen Invitae United States	160	62	D Deletion/duplication analysis C Sequence analysis of the entire coding region
PrimBio Cancer HotSpot Panel PrimBio Research Institute United States	60	50	T Targeted variant analysis
CHIC2 (4q12) Deletion (FIP1L1 and PDGFRA Fusion), FISH Mayo Clinic Laboratories Mayo Clinic United States	2	2	I FISH-interphase
Familial Gastrointestinal Stromal Tumors (GISTs) via the PDGFRA Gene PreventionGenetics, part of Exact Sciences United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
GIST (detetion of somatic mutacions of exons 12, 14 and 18 of PDGFRA gene) CGC Genetics Unilabs Portugal	1	1	E Sequence analysis of select exons
Inherited Cancer Panel Dhiti Omics Technologies Private Ltd India	136	84	C Sequence analysis of the entire coding region
Hypereosinophilic Syndrome Genetic Panel Duzen Laboratories Duzen BBAGUAS Turkey	5	6	I FISH-interphase
4q Rearrangement (FIP1LI/PDGFRA) (FISH) Duzen Laboratories Duzen BBAGUAS Turkey	1	2	I FISH-interphase
Oncology FISH Analysis - CHIC2: Deleted 4q [Hypereosinophilic Syndrome] Baylor Genetics United States	1	1	T Targeted variant analysis
OncoGeneDx Custom Panel GeneDx United States	103	82	D Deletion/duplication analysis C Sequence analysis of the entire coding region
HYPEREOSINOPHILIC SYNDROME Laboratorio de Genetica Clinica SL Spain	1	1	C Sequence analysis of the entire coding region
Sarcoma Comprehensive Panel Fulgent Genetics United States	70	26	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Gastric Cancer Comprehensive Panel Fulgent Genetics United States	37	15	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Full Comprehensive Cancer Panel Fulgent Genetics United States	329	127	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Syndromes with immunodeficiency Panel CeGaT GmbH Germany	33	38	C Sequence analysis of the entire coding region
PDGFRA Single Gene Fulgent Genetics United States	2	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.