Clinical and research tests for C0152200 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Achromatopsia Amplexa Genetics Amplexa Genetics A/S Denmark	1	10	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
Achromatopsia (ACHM) Panel PreventionGenetics, part of Exact Sciences United States	7	6	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	330	746	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 300 PLUS Panel Integrated Genetics Westborough LabCorp United States	172	350	D Deletion/duplication analysis X Mutation scanning of select exons 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
Inheritest High Frequency panel Integrated Genetics Westborough LabCorp United States	109	110	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region
Foresight Myriad Genetics, Inc. United States	112	110	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Retinopathy and Optic Atrophy NGS Panel Fulgent Genetics United States	563	241	D Deletion/duplication analysis C Sequence analysis of the entire coding region
GNAT2 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
CNGB3 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
CNGA3 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
Achromatopsia Panel Blueprint Genetics Finland	1	8	D Deletion/duplication analysis C Sequence analysis of the entire coding region
ATF6 Single Gene Fulgent Genetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Achromatopsia Bioarray Spain	1	1	C Sequence analysis of the entire coding region
Achromatopsia Panel CeGaT GmbH Germany	10	6	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.