Clinical and research tests for C1837341 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
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
Transposition of the great arteries, dextro-looped 1, 608808, Autosomal dominant; DTGA1 (Congenitally uncorrected transposition of the great arteries) (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
Transposition of the great arteries, dextro-looped 1, 608808, Autosomal dominant; DTGA1 (Congenitally uncorrected transposition of the great arteries) (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
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	118	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
NODAL Sequencing Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States	4	1	S Mutation scanning of the entire coding region
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
Congenital Heart Defect NGS Panel Fulgent Genetics United States	379	115	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CONGENITALLY UNCORRECTED TRANSPOSITION OF THE GREAT ARTERIES (CCTGA) Laboratorio de Genetica Clinica SL Spain	4	4	C Sequence analysis of the entire coding region
CONGENITAL HEART DEFECTS Laboratorio de Genetica Clinica SL Spain	8	7	C Sequence analysis of the entire coding region
Single gene testing MED13L CeGaT GmbH Germany	1	1	C Sequence analysis of the entire coding region
Invitae Congenital Heart Defects and Heterotaxy Panel Labcorp Genetics (formerly Invitae) LabCorp United States	128	82	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Heterotaxy Panel Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States	156	114	C Sequence analysis of the entire coding region
MED13L Single Gene Fulgent Genetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Clinical Exome Fulgent Genetics United States	5130	4674	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Intellectual Disability NGS Panel Fulgent Genetics United States	1058	554	D Deletion/duplication analysis C Sequence analysis of the entire coding region

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