Clinical and research tests for 3516 - Genetic Testing Registry (GTR) - NCBI

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

<< First< Prev

Page 1 of 3

Results: 1 to 20 of 53

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
RBPJ Gene Adams-Oliver syndrome type 3 NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
GenepoweRx_Diabetes Care GenepoweRx Uppaluri K&H Personalized Medicine Clinic India	17	41	D Deletion/duplication analysis H Detection of homozygosity S Mutation scanning 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
CentoSkin Panel Centogene AG - the Rare Disease Company Germany	157	151	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Adams-Oliver Syndrome Panel Labcorp Genetics (formerly Invitae) LabCorp United States	9	8	D Deletion/duplication analysis
Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel Labcorp Genetics (formerly Invitae) LabCorp United States	971	680	D Deletion/duplication analysis
Invitae Limb and Digital Malformations Panel Labcorp Genetics (formerly Invitae) LabCorp United States	356	177	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Adams-Oliver syndrome Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	1	6	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Adams-Oliver syndrome NGS panel HNL Genomics Connective Tissue Gene Tests United States	1	6	C Sequence analysis of the entire coding region T Targeted variant analysis
Adams-Oliver syndrome Deletion/ Duplication panel HNL Genomics Connective Tissue Gene Tests United States	1	6	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Adams-Oliver Syndrome Panel PreventionGenetics, part of Exact Sciences United States	7	8	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Adams-Oliver syndrome 3, 614814, Autosomal dominant; AOS3 (Adams-Oliver syndrome) (RBPJ 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
Adams-Oliver syndrome 3, 614814, Autosomal dominant; AOS3 (Adams-Oliver syndrome) (RBPJ 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
qGenEx Intellectual disability Quantitative Genomic Medicine Laboratories, SL Spain	3	1969	S Mutation scanning of the entire coding region C Sequence analysis of the entire coding region
PulmZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine United States	171	137	C Sequence analysis of the entire coding region
Congenital Limb Malformation Panel PreventionGenetics, part of Exact Sciences United States	103	99	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Adams-Oliver syndrome Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	1	6	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Adams-Oliver syndrome NGS panel HNL Genomics Connective Tissue Gene Tests United States	1	6	C Sequence analysis of the entire coding region T Targeted variant analysis
Adams-Oliver syndrome Deletion/ Duplication panel HNL Genomics Connective Tissue Gene Tests United States	1	6	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Cornelia de Lange Syndrome and Related Disorders Panel PreventionGenetics, part of Exact Sciences United States	43	42	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis

<< First< Prev

Page 1 of 3

Results: 1 to 20 of 53

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.