Clinical and research tests for C1860823 - 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
CentoNeuro Panel Centogene AG - the Rare Disease Company Germany	1886	1858	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoNephro Panel Centogene AG - the Rare Disease Company Germany	498	498	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoNephro Plus Panel Centogene AG - the Rare Disease Company Germany	499	499	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
CentoDysmorph Panel Centogene AG - the Rare Disease Company Germany	740	728	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Skeletal Disorders Panel Invitae United States	624	349	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
Trichorhinophalangeal syndrome, type III, 190351, Autosomal dominant; TRPS3 (Trichorhinophalangeal syndrome type 1 and 3) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Trichorhinophalangeal syndrome, type III, 190351, Autosomal dominant; TRPS3 (Trichorhinophalangeal syndrome type 1 and 3) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Invitae Ectodermal Dysplasia and Related Disorders Panel Invitae United States	148	73	D Deletion/duplication analysis
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 NGS Panel Fulgent Genetics United States	139	24	D Deletion/duplication analysis 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 Types I and III , Deletions-Duplications (MLPA) TRPS1 Gene Reference Laboratory Genetics Spain	2	1	D Deletion/duplication analysis
Invitae Trichorhinophalangeal Syndrome Panel Invitae United States	5	2	D Deletion/duplication analysis 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 III MedGene Slovakia	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region

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IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.