Clinical and research tests for C4225208 - Genetic Testing Registry (GTR) - NCBI

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Results: 1 to 16 of 16

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Chromosomal Microarray UW Cytogenetic Services Wisconsin State Laboratory of Hygiene United States	7	1	D Deletion/duplication analysis
MED13L - 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
CentoNeuro Panel Centogene AG - the Rare Disease Company Germany	1886	1858	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Intellectual Disability Panel Centogene AG - the Rare Disease Company Germany	777	770	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
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
Invitae Neurodevelopmental Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	404	241	D Deletion/duplication analysis
Nonsyndromic Congenital Heart Disease Panel PreventionGenetics, part of Exact Sciences United States	54	44	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Autism Spectrum Disorders (ASD) Panel PreventionGenetics, part of Exact Sciences United States	224	170	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
MED13L-Related Syndromic Intellectual Disability via the MED13L Gene PreventionGenetics, part of Exact Sciences United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Mental retardation and distinctive facial features with or without cardiac defects, 616789, Autosomal dominant; MRFACD (Cardiac anomalies-developmental delay-facial dysmorphism syndrome) (MED13L 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
Mental retardation and distinctive facial features with or without cardiac defects, 616789, Autosomal dominant; MRFACD (Cardiac anomalies-developmental delay-facial dysmorphism syndrome) (MED13L 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
Top 99 Genetic Causes of Developmental Delay Panel PreventionGenetics, part of Exact Sciences United States	170	99	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Congenital Heart Disease Panel Labcorp Genetics (formerly Invitae) LabCorp United States	107	55	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Cornelia de Lange Syndrome and Related Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	44	31	D Deletion/duplication analysis
MED13L Deletion/duplication analysis Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States	2	1	D Deletion/duplication analysis

Results: 1 to 16 of 16

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