Clinical and research tests for C5399974 - Genetic Testing Registry (GTR) - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

<< First < Prev

Page 2 of 3

Results: 21 to 40 of 47

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Robinow syndrome Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	4	6	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Robinow syndrome NGS panel HNL Genomics Connective Tissue Gene Tests United States	4	4	C Sequence analysis of the entire coding region T Targeted variant analysis
Differences of Sex Development (DSD) Panel PreventionGenetics, part of Exact Sciences United States	149	158	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Differences of Sex Development (DSD) and Infertility Panel PreventionGenetics, part of Exact Sciences United States	223	238	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Robinow Syndrome and Autosomal Recessive Brachydactyly, Type B1 via the ROR2 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
ROR2 Institute for Human Genetics University Medical Center Freiburg Germany	2	1	C Sequence analysis of the entire coding region
Central skeletal dysplasias panel. NGS panel of 111 genes. Genologica Medica Spain	258	111	C Sequence analysis of the entire coding region
Micromelic dysplasia panel. NGS panel of 27 genes. Genologica Medica Spain	83	27	C Sequence analysis of the entire coding region
Brachydactyly / syndactyly panel. NGS panel of 20 genes. Genologica Medica Spain	55	20	C Sequence analysis of the entire coding region
Skeletal diseases. NGS panel of 169 genes. Genologica Medica Spain	373	169	C Sequence analysis of the entire coding region
Robinow Syndrome panel Genetic Services Laboratory University of Chicago United States	1	6	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Robinow syndrome: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	4	4	C Sequence analysis of the entire coding region
Micromelic Dysplasia NGS Panel Fulgent Genetics United States	140	24	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Robinow Syndrome NGS Panel Fulgent Genetics United States	76	5	D Deletion/duplication analysis C Sequence analysis of the entire coding region
ROR2-Related Robinow Syndrome: gene sequencing CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	1	1	C Sequence analysis of the entire coding region
ROBINOW SYNDROME, AUTOSOMAL RECESSIVE Laboratorio de Genetica Clinica SL Spain	1	1	C Sequence analysis of the entire coding region
Robinow Syndrome , Deletions-Duplications (MLPA) ROR2 Gene Reference Laboratory Genetics Spain	1	1	D Deletion/duplication analysis
Robinow Syndrome, Sequencing ROR2 Gene Reference Laboratory Genetics Spain	1	1	C Sequence analysis of the entire coding region
Abnormal/Ambiguous Genitalia Panel Genetic Services Laboratory University of Chicago United States	81	92	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

<< First < Prev

Page 2 of 3

Results: 21 to 40 of 47

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.