Clinical and research tests for C1970757 - Genetic Testing Registry (GTR) - NCBI

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

<< First< Prev

Page 1 of 2

Results: 1 to 20 of 22

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
EDA - 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
Tooth agenesis, selective, X-linked 1, 313500, X-linked dominant; STHAGX1 (Oligodontia) (EDA 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
Tooth agenesis, selective, X-linked 1, 313500, X-linked dominant; STHAGX1 (Oligodontia) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Invitae Comprehensive Carrier Screen Invitae United States	886	547	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Oligodontia - Selective tooth agenesis Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	10	9	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Oligodontia - Selective tooth agenesis NGS panel HNL Genomics Connective Tissue Gene Tests United States	10	9	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Oligodontia - Selective tooth agenesis Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	10	9	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Tooth Agenesis Panel PreventionGenetics, part of Exact Sciences United States	15	9	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Ectodermal Dysplasia and Related Disorders Panel Invitae United States	148	73	D Deletion/duplication analysis
Ectodermal Dysplasia Panel PreventionGenetics, part of Exact Sciences United States	11	6	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Ectodermal Dysplasia via the EDA 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
X-chromosome High Resolution microarray analysis Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center United States	240	171	D Deletion/duplication analysis
EDA MLPA Institute for Human Genetics University Medical Center Freiburg Germany	2	1	D Deletion/duplication analysis
Ectodermal dysplasia panel. 23-gene NGS panel. Genologica Medica Spain	60	23	C Sequence analysis of the entire coding region
Tooth agenesis, selective: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	7	7	C Sequence analysis of the entire coding region
Beacon Expanded Female Carrier Screening Plus Panel Fulgent Genetics United States	716	335	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Beacon Expanded Female Carrier Screening Panel Fulgent Genetics United States	690	326	D Deletion/duplication analysis C Sequence analysis of the entire coding region
EDA Sequencing Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States	2	1	C Sequence analysis of the entire coding region T Targeted variant analysis
EDA Single Gene Fulgent Genetics United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Ectodermal Dysplasia NGS Panel Fulgent Genetics United States	7	3	D Deletion/duplication analysis C Sequence analysis of the entire coding region

<< First< Prev

Page 1 of 2

Results: 1 to 20 of 22

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.