Clinical and research tests for 619145 - Genetic Testing Registry (GTR) - NCBI

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Results: 1 to 15 of 15

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
XRCC2 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	3	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
MAP3K7 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Inborn Errors of Immunity and Cytopenias Panel Labcorp Genetics (formerly Invitae) LabCorp United States	754	562	D Deletion/duplication analysis
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
Invitae Skeletal Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	624	349	D Deletion/duplication analysis
MarrowZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine United States	249	155	C Sequence analysis of the entire coding region
Frontometaphyseal dysplasia Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	3	3	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Frontometaphyseal dysplasia NGS panel HNL Genomics Connective Tissue Gene Tests United States	3	3	C Sequence analysis of the entire coding region T Targeted variant analysis
Frontometaphyseal dysplasia Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	3	3	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Frontometaphyseal dysplasia 2, 617137, Autosomal dominant; FMD2 (Frontometaphyseal dysplasia) (MAP3K7 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
Frontometaphyseal dysplasia 2, 617137, Autosomal dominant; FMD2 (Frontometaphyseal dysplasia) (MAP3K7 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
Frontometaphyseal dysplasia Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	3	3	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Frontometaphyseal dysplasia NGS panel HNL Genomics Connective Tissue Gene Tests United States	3	3	C Sequence analysis of the entire coding region T Targeted variant analysis
Frontometaphyseal dysplasia Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	3	3	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Frontometaphyseal dysplasia: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	2	2	C Sequence analysis of the entire coding region

Results: 1 to 15 of 15

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.