Clinical and research tests for C3888018 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Hyperinsulinism Panel Genetic Services Laboratory University of Chicago United States	13	24	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Tier 1 Panel: Diazoxide Unresponsive Hyperinsulinism Genetic Services Laboratory University of Chicago United States	2	3	D Deletion/duplication analysis C Sequence analysis of the entire coding region
HK1 Genetic Diagnostic Laboratory University of Pennsylvania School of Medicine United States	2	1	E Sequence analysis of select exons
Expanded Carrier Screening Genome-Nilou Lab Iran	110	146	C Sequence analysis of the entire coding region
Familial Hyperinsulinism Quest Diagnostics Nichols Institute San Juan Capistrano United States	1	1	T Targeted variant analysis
Custom Panel (Endocrinology) PreventionGenetics, part of Exact Sciences United States	4	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
KCNJ11-Related Familial Hyperinsulinism Myriad Genetics, Inc. United States	1	1	C Sequence analysis of the entire coding region
qCarrier Plus Quantitative Genomic Medicine Laboratories, SL Spain	327	300	C Sequence analysis of the entire coding region
Level 2: Expanded Congenital Hyperinsulinism Panel Genetic Diagnostic Laboratory University of Pennsylvania School of Medicine United States	7	6	D Deletion/duplication analysis S Mutation scanning of the entire coding region
Level 1: Congenital Hyperinsulinisim Panel Genetic Diagnostic Laboratory University of Pennsylvania School of Medicine United States	5	3	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 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
Inheritest 100 PLUS panel Integrated Genetics Westborough LabCorp United States	115	142	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region
Dysautonomia, Familial (ELP1), 2 Variants ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories United States	9	9	E Sequence analysis of select exons

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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.