Clinical and research tests for C0339527 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Expanded Carrier Screening Genome-Nilou Lab Iran	110	146	C Sequence analysis of the entire coding region
Leber Congenital Amaurosis Amplexa Genetics Amplexa Genetics A/S Denmark	1	22	S Mutation scanning of the entire coding region
Comprehensive Inherited Retinal Dystrophies Panel PreventionGenetics, part of Exact Sciences United States	16	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Targeted Variant Analysis Integrated Genetics Westborough LabCorp United States	330	746	T Targeted variant analysis
Targeted Variant, Fetal Analysis Integrated Genetics Westborough LabCorp United States	292	746	T Targeted variant analysis
GeneSeq PLUS Integrated Genetics Westborough LabCorp United States	287	578	D Deletion/duplication analysis C Sequence analysis of the entire coding region
GeneSeq PLUS, Fetal Analysis Integrated Genetics Westborough LabCorp United States	292	597	C Sequence analysis of the entire coding region
Partner Reflex to GeneSeq Integrated Genetics Westborough LabCorp United States	330	746	C Sequence analysis of the entire coding region
Inheritest 500 PLUS Panel Integrated Genetics Westborough LabCorp United States	287	578	D Deletion/duplication analysis E Sequence analysis of select exons C Sequence analysis of the entire coding region
Horizon 274 Male Natera, Inc. United States	244	254	E Sequence analysis of select exons C Sequence analysis of the entire coding region
Horizon 274 Plus TSE Natera, Inc. United States	265	274	E Enzyme assay E Sequence analysis of select exons C Sequence analysis of the entire coding region T Targeted variant analysis
Horizon 274 Natera, Inc. United States	265	274	E Sequence analysis of select exons C Sequence analysis of the entire coding region T Targeted variant analysis
Horizon 274 Natera, Inc. United States	265	274	E Sequence analysis of select exons C Sequence analysis of the entire coding region T Targeted variant analysis
Leber Congenital Amaurosis NGS Panel Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States	23	24	C Sequence analysis of the entire coding region
LEBER CONGENITAL AMAUROSIS Laboratorio de Genetica Clinica SL Spain	16	17	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Retinal dystrophy Human Developmental Genetics Laboratory Medical College of Wisconsin United States	5	1	S Mutation scanning of the entire coding region
GUCY2D single gene sequencing Molecular Vision Laboratory United States	1	1	E Sequence analysis of select exons C Sequence analysis of the entire coding region T Targeted variant analysis
CRB1 single gene sequencing Molecular Vision Laboratory United States	2	1	E Sequence analysis of select exons C Sequence analysis of the entire coding region T Targeted variant analysis
CEP290 single gene sequencing Molecular Vision Laboratory United States	2	1	E Sequence analysis of select exons C Sequence analysis of the entire coding region T Targeted variant analysis
CABP4 single gene sequencing Molecular Vision Laboratory United States	3	1	E Sequence analysis of select exons C Sequence analysis of the entire coding region T Targeted variant analysis

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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.