Clinical and research tests for C0432233 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
TRPS1 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Limb and Digital Malformations Panel Invitae United States	356	177	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Trichorhinophalangeal syndrome, type I, 190350, Autosomal dominant; TRPS1 (Trichorhinophalangeal syndrome type 1 and 3) (TRPS1 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
Trichorhinophalangeal syndrome, type I, 190350, Autosomal dominant; TRPS1 (Trichorhinophalangeal syndrome type 1 and 3) (TRPS1 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
TRPS1 mutation analysis Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center, Location AMC Netherlands	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Tricho-Rhino-Phalangeal Syndrome Types I and III via the TRPS1 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
Micromelic dysplasia panel. NGS panel of 27 genes. Genologica Medica Spain	83	27	C Sequence analysis of the entire coding region
TRPS1 Institute for Human Genetics University Medical Center Freiburg Germany	2	1	C Sequence analysis of the entire coding region
Micromelic Dysplasia NGS Panel Fulgent Genetics United States	139	24	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Trichorhinophalangeal Syndrome: gene sequencing CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	1	1	C Sequence analysis of the entire coding region
TRICHORHINOPHALANGEAL SYNDROME Laboratorio de Genetica Clinica SL Spain	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Trichorhinophalangeal Syndrome Type I , Sequencing TRPS1 Gene Reference Laboratory Genetics Spain	1	1	C Sequence analysis of the entire coding region
Invitae Trichorhinophalangeal Syndrome Panel Invitae United States	5	2	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Micromelic dysplasia: acromelic, acromesomelic, mesomelic and rhizo-mesomelic dysplasia Panel CeGaT GmbH Germany	18	19	C Sequence analysis of the entire coding region
Trichorhinophalangeal syndrome type 1 Bioarray Spain	1	1	C Sequence analysis of the entire coding region
Single gene testing TRPS1 CeGaT GmbH Germany	2	1	C Sequence analysis of the entire coding region
TRPS1 Single Gene Fulgent Genetics United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Skeletal Dysplasias NGS Panel Fulgent Genetics United States	542	178	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Clinical Exome Fulgent Genetics United States	5127	4672	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Triorhinophalangeal syndrome I MedGene Slovakia	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region

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