Clinical and research tests for C0282529 - Genetic Testing Registry (GTR) - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Results: 1 to 18 of 18

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Plasmalogens, BS Mayo Clinic Laboratories Mayo Clinic United States	3	1	A Analyte
Plasmalogens, RBC Mayo Clinic Laboratories Mayo Clinic United States	3	1	A Analyte
Peroxisomal Disorder Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	4	28	D Deletion/duplication analysis C Sequence analysis 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
Peroxisomal Disorder Panel, Sequencing ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories United States	17	26	C Sequence analysis of the entire coding region
Invitae Adult Refsum Disease Panel Invitae United States	5	2	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Peroxisomal Disorders Panel Blueprint Genetics Finland	4	27	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Chondrodysplasia punctata Panel CeGaT GmbH Germany	6	8	C Sequence analysis of the entire coding region
Rhizomelic chondrodysplasia punctata Bioarray Spain	1	1	C Sequence analysis of the entire coding region
Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication, Fetal ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories United States	48	47	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories United States	48	47	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Rhizomelic Chondrodysplasia Punctatas Braverman Laboratory Research Institute of the McGill University Health Center Canada	5	6	C Sequence analysis of the entire coding region

Results: 1 to 18 of 18

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.