Clinical and research tests for C0079504 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Autoinflammatory Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	182	117	C Sequence analysis of the entire coding region
Early Onset IBD Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	163	110	C Sequence analysis of the entire coding region
HLH Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	35	23	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hermansky-Pudlak Syndrome Amplexa Genetics Amplexa Genetics A/S Denmark	1	9	S Mutation scanning of the entire coding region
Hermansky-Pudlak syndrome panel Amplexa Genetics Amplexa Genetics A/S Denmark	1	8	S Mutation scanning of the entire coding region
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
Comprehensive Platelet Disorder Panel Versiti Diagnostic Laboratories Versiti, Inc United States	60	63	D Deletion/duplication analysis S Mutation scanning of the entire coding region
HERMANSKY-PUDLAK SYNDROME Laboratorio de Genetica Clinica SL Spain	1	9	C Sequence analysis of the entire coding region
DTNBP1 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
BLOC1S3 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
Albinism Panel Blueprint Genetics Finland	3	23	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hermansky-Pudlak Syndrome Panel Blueprint Genetics Finland	1	23	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Bleeding Disorder/Coagulopathy Panel Blueprint Genetics Finland	7	62	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.