Clinical and research tests for C1835817 - Genetic Testing Registry (GTR)

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Results: 21 to 40 of 125

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Invitae eMERGE Panel Invitae United States	59	16	D Deletion/duplication analysis
Invitae Inborn Errors of Immunity and Cytopenias Panel Invitae United States	754	562	D Deletion/duplication analysis
PALB2 (PARTNER AND LOCALIZER OF BRCA2 Center for Human Genetics, Inc United States	2	1	C Sequence analysis of the entire coding region
CancerNext® 37 Ambry Genetics United States	79	37	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Variant Resolution Test for CancerNext® 37 (+RNAinsight®) Ambry Genetics United States	79	18	D Deletion/duplication analysis R RNA analysis C Sequence analysis of the entire coding region
Variant Resolution Test for Penn Cancer Grant Panel (+RNAinsight®) Ambry Genetics United States	79	18	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Penn Cancer Grant Panel Ambry Genetics United States	79	80	D Deletion/duplication analysis C Sequence analysis of the entire coding region
VACTERL Association and Related Disorders Panel PreventionGenetics, part of Exact Sciences United States	123	84	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
MarrowZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States	249	155	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
BRCANext-Expanded™ Ambry Genetics United States	35	20	D Deletion/duplication analysis C Sequence analysis of the entire coding region
BRCANext™ Ambry Genetics United States	35	18	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Fanconi anemia, complementation group N, 610832; FANCN (Fanconi anemia) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Fanconi anemia, complementation group N, 610832; FANCN (Fanconi anemia) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Fanconi anemia, complementation group N, 610832; FANCN (Fanconi anemia) (PALB2 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
Fanconi anemia, complementation group N, 610832; FANCN (Fanconi anemia) (PALB2 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
Medulloblastoma Panel PreventionGenetics, part of Exact Sciences United States	21	9	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
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

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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.

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Results: 21 to 40 of 125

Results: 21 to 40 of 125