Clinical and research tests for C3553748 - Genetic Testing Registry (GTR) - NCBI

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Results: 1 to 17 of 17

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
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
Adams-Oliver Syndrome Panel PreventionGenetics United States	7	8	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Adams-Oliver syndrome 3, 614814, Autosomal dominant; AOS3 (Adams-Oliver syndrome) (RBPJ 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 3, 614814, Autosomal dominant; AOS3 (Adams-Oliver syndrome) (RBPJ 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 United States	43	42	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
RBPJ Institute for Human Genetics University Medical Center Freiburg Germany	1	1	C Sequence analysis of the entire coding region
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
Adam-Oliver Syndrome Genetics Laboratory University of Oklahoma Health Sciences Center United States	5	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 3 Syndrome, Sequencing RBPJ Gene Reference Laboratory Genetics Spain	1	1	C Sequence analysis of the entire coding region

Results: 1 to 17 of 17

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