Clinical and research tests for 167416 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
PAX9 Gene Tooth agenesis, selective type 3 NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
PAX9 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoDysmorph Panel Centogene AG - the Rare Disease Company Germany	740	728	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Tooth agenesis, selective, 3, 604625, Autosomal dominant; STHAG3 (Oligodontia) (PAX9 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
Cleft Lip/Cleft Palate Panel PreventionGenetics, part of Exact Sciences United States	177	163	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
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
Tooth Agenesis via the PAX9 Gene PreventionGenetics, part of Exact Sciences United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Tooth agenesis, selective 3 (sequence analysis of PAX9 gene) CGC Genetics Unilabs Portugal	1	1	C Sequence analysis of the entire coding region
ECTODERMAL DYSPLASIA EXOME PANEL Laboratorio de Genetica Clinica SL Spain	1	110	E Sequence analysis of select exons
Amelogenesis Bioarray Spain	1	172	C Sequence analysis of the entire coding region
Genomic Unity® Custom Analysis Variantyx, Inc. United States	1	4054	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region
Prenatal Known Familial Mutation GeneDx United States	1	1716	D Deletion/duplication analysis T Targeted variant analysis
Custom XomeDxSlice (2-150 Genes, Proband Only) GeneDx United States	1	1718	D Deletion/duplication analysis 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
Mental retardation - different panels Institute of Human Genetics Cologne University Germany	7	2536	D Deletion/duplication analysis C Sequence analysis of the entire coding region
qGenEx Craniofacial Anomalies Quantitative Genomic Medicine Laboratories, SL Spain	135	136	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.