Clinical and research tests for C1854630 - Genetic Testing Registry (GTR) - NCBI

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Results: 21 to 40 of 42

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Cornelia de Lange syndrome NGS panel HNL Genomics Connective Tissue Gene Tests United States	8	8	C Sequence analysis of the entire coding region T Targeted variant analysis
Cornelia de Lange syndrome Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	8	8	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Cornelia de Lange syndrome Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	8	8	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Cornelia de Lange Syndrome and Cornelia de Lange Syndrome-Related Disorders Panel PreventionGenetics, part of Exact Sciences United States	43	42	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Primary Immunodeficiency Panel Invitae United States	552	424	D Deletion/duplication analysis
Invitae Agammaglobulinemia Panel Invitae United States	39	36	D Deletion/duplication analysis
Invitae Cornelia de Lange Syndrome and Related Disorders Panel Invitae United States	44	31	D Deletion/duplication analysis
Cornelia de Lange Syndrome and Wiedemann-Steiner Syndrome via the KMT2A 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
Cornelia de Lange Syndrome Panel PreventionGenetics, part of Exact Sciences United States	8	8	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
KMT2A Institute for Human Genetics University Medical Center Freiburg Germany	1	1	C Sequence analysis of the entire coding region
Acute myelogenous leukemia (AML, detection of mutations PTD on KMT2A gene) CGC Genetics Unilabs Portugal	1	1	T Targeted variant analysis
EpiSign Variant Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States	34	1	M Methylation analysis
EpiSign Complete Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States	34	1	M Methylation analysis
WIEDEMANN-STEINER SYNDROME Laboratorio de Genetica Clinica SL Spain	1	2	C Sequence analysis of the entire coding region
Coffin-Siris Syndrome NGS Panel Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States	22	22	C Sequence analysis of the entire coding region
Brain malformations Asper Biogene Asper Biogene LLC Estonia	318	252	C Sequence analysis of the entire coding region
KMT2A Single Gene Fulgent Genetics United States	37	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
KMT2A MGZ Medical Genetics Center Germany	1	1	C Sequence analysis of the entire coding region
Single gene testing KMT2A CeGaT GmbH Germany	1	1	C Sequence analysis of the entire coding region
Microcephaly Asper Biogene Asper Biogene LLC Estonia	111	96	C Sequence analysis of the entire coding region

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Results: 21 to 40 of 42

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.