Clinical and research tests for C3554343 - Genetic Testing Registry (GTR) - NCBI

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Results: 1 to 18 of 18

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
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
Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel Invitae United States	971	680	D Deletion/duplication analysis
Early-Onset High Myopia Panel PreventionGenetics, part of Exact Sciences United States	285	137	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Neurodevelopmental Disorders Panel Invitae United States	404	241	D Deletion/duplication 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
PACS1 Syndrome via the PACS1 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
Schuurs-Hoeijmakers syndrome, 615009, Autosomal dominant; SHMS (Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome) (PACS1 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
Schuurs-Hoeijmakers syndrome, 615009, Autosomal dominant; SHMS (Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome) (PACS1 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 Epilepsy Panel Invitae United States	466	297	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Comprehensive Epilepsy MNG Laboratories (Medical Neurogenetics, LLC.) United States	414	800	C Sequence analysis of the entire coding region
Comprehensive Epilepsy Panel, Sequencing and Deletion/Duplication ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories United States	234	240	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Cornelia de Lange syndrome Al Jalila Children's Genomics Center Al Jalila Childrens Speciality Hospital United Arab Emirates	10	10	C Sequence analysis of the entire coding region
Mental retardation, autosomal dominant: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	62	61	C Sequence analysis of the entire coding region
Cornelia de Lange Syndrome Panel Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia United States	10	10	D Deletion/duplication analysis C Sequence analysis of the entire coding region
PACS1 Sequencing Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States	1	1	C Sequence analysis of the entire coding region T Targeted variant analysis
Epilepsy/Seizure NGS Panel Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States	158	165	C Sequence analysis of the entire coding region

Results: 1 to 18 of 18

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