Clinical and research tests for C4225271 - Genetic Testing Registry (GTR) - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Results: 1 to 19 of 19

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
DLL4 - 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
CentoCardio Panel Centogene AG - the Rare Disease Company Germany	289	275	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoDysmorph Panel Centogene AG - the Rare Disease Company Germany	740	728	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoSkin Panel Centogene AG - the Rare Disease Company Germany	157	151	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Adams-Oliver Syndrome Panel Invitae United States	9	8	D Deletion/duplication analysis
Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel Invitae United States	971	680	D Deletion/duplication analysis
Invitae Limb and Digital Malformations Panel Invitae United States	356	177	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Polydactyly and Syndactyly Panel PreventionGenetics, part of Exact Sciences United States	320	231	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Polydactyly Panel PreventionGenetics, part of Exact Sciences United States	231	139	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Adams-Oliver Syndrome Panel PreventionGenetics, part of Exact Sciences United States	7	8	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Adams-Oliver syndrome 6, 616589, Autosomal dominant; AOS6 (Adams-Oliver syndrome) (DLL4 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
Adams-Oliver syndrome 6, 616589, Autosomal dominant; AOS6 (Adams-Oliver syndrome) (DLL4 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
PulmZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States	163	128	C Sequence analysis of the entire coding region
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
Limb malformation panel. NGS panel of 45 genes. Genologica Medica Spain	77	45	C Sequence analysis of the entire coding region
Adams-Oliver syndrome panel. 8-gene NGS panel. Genologica Medica Spain	9	8	C Sequence analysis of the entire coding region
Adams-Oliver syndrome: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	6	6	C Sequence analysis of the entire coding region
ADAMS-OLIVER SYNDROME Laboratorio de Genetica Clinica SL Spain	6	6	C Sequence analysis of the entire coding region
Adams-Oliver Type 6 Syndrome, Sequencing DLL4 Gene Reference Laboratory Genetics Spain	1	1	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.