Clinical and research tests for 607632 - Genetic Testing Registry (GTR)

Results: 1 to 19 of 19

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
TWNK Gene Spinocerebellar ataxia, infantile-onset NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
PSENEN - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoImmuno Panel Centogene AG - the Rare Disease Company Germany	323	329	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Inborn Errors of Immunity and Cytopenias Panel Invitae United States	754	562	D Deletion/duplication analysis
Acne inversa, familial, 2, 613736, Autosomal dominant (PSENEN 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 Primary Immunodeficiency Panel Invitae United States	552	424	D Deletion/duplication analysis
Immune Disorders Panel CGC Genetics Unilabs Portugal	1	385	C Sequence analysis of the entire coding region
Dermatology Panel CGC Genetics Unilabs Portugal	1	277	C Sequence analysis of the entire coding region
AUTOINFLAMMATORY SYNDROMES EXOME PANEL Laboratorio de Genetica Clinica SL Spain	1	108	E Sequence analysis of select exons
Genomic Unity® Custom Analysis Variantyx, Inc. United States	1	4054	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region
PSENEN Institute for Human Genetics University Medical Center Freiburg Germany	1	1	C Sequence analysis of the entire coding region
Acne inversa: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	3	3	C Sequence analysis of the entire coding region
Comprehensive Primary Immunodeficiency NGS Panel Fulgent Genetics United States	1048	472	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Primary Immunodeficiency Panel Blueprint Genetics Finland	2	275	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Autoinflammatory Syndrome Panel Blueprint Genetics Finland	6	32	D Deletion/duplication analysis C Sequence analysis of the entire coding region
NGS panel - dementia/ALS Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center Netherlands	42	54	D Deletion/duplication analysis S Mutation scanning of the entire coding region T Targeted variant analysis
PSENEN Single Gene Fulgent Genetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Clinical Exome Fulgent Genetics United States	5129	4672	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Autoinflammatory panel Genome Diagnostics Laboratory University Medical Center Utrecht Netherlands	27	19	C Sequence analysis of the entire coding region

Results: 1 to 19 of 19

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: 1 to 19 of 19

Results: 1 to 19 of 19