Clinical and research tests for C0265261 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
CHRNG - 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
Neuromuscular Panel Centogene AG - the Rare Disease Company Germany	325	316	D Deletion/duplication analysis X Mutation scanning of select exons 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
Congenital Myasthenic Syndrome Panel PreventionGenetics United States	58	31	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Non-Immune Hydrops Fetalis Panel PreventionGenetics United States	291	148	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Multiple pterygium syndrome, lethal type Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	7	3	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Multiple pterygium syndrome, lethal type Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	7	3	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Comprehensive Carrier Screen Invitae United States	886	547	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Multiple pterygium syndrome, lethal type Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	7	3	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Multiple pterygium syndrome, lethal type Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	7	3	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Fetal Akinesia Deformation Sequence/Lethal Multiple Pterygium Syndrome Panel PreventionGenetics United States	7	11	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Multiple Pterygium Syndrome via the CHRNG Gene PreventionGenetics United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Arthrogryposis Panel GeneDx United States	156	91	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Neuromuscular disorders - different panels Institute of Human Genetics Cologne University Germany	16	474	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Arthrogryposis NGS Panel Fulgent Genetics United States	175	60	D Deletion/duplication analysis 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 Male Carrier Screening Panel Fulgent Genetics United States	636	298	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Beacon Expanded Male Carrier Screening Plus Panel Fulgent Genetics United States	661	306	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

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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.