Clinical and research tests for C1836544 - Genetic Testing Registry (GTR) - NCBI

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

<< First< Prev

Page 1 of 2

Results: 1 to 20 of 25

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Lysosomal Storage Disease Panel Molecular Genetics Laboratory London Health Sciences Centre Canada	77	50	D Deletion/duplication analysis E Sequence analysis of select exons C Sequence analysis of the entire coding region
CentoMetabolic MOx Centogene AG - the Rare Disease Company Germany	195	221	A Analyte D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoXome MOx (Whole Exome Sequencing) Centogene AG - the Rare Disease Company Germany	13	19	A Analyte D Deletion/duplication analysis C Sequence analysis of the entire coding region U Uniparental disomy study (UPD)
CentoLSD MOx Centogene AG - the Rare Disease Company Germany	12	36	A Analyte D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoSphingo MOx Centogene AG - the Rare Disease Company Germany	10	20	A Analyte D Deletion/duplication analysis C Sequence analysis of the entire coding region
NAGA - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoNeuro Panel Centogene AG - the Rare Disease Company Germany	1886	1858	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Epilepsy Panel Centogene AG - the Rare Disease Company Germany	734	744	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Intellectual Disability Panel Centogene AG - the Rare Disease Company Germany	777	770	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
CentoIEM Panel Centogene AG - the Rare Disease Company Germany	669	688	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel Invitae United States	971	680	D Deletion/duplication analysis
Lysosomal Storage Disorders Panel PreventionGenetics United States	242	146	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Broad Carrier Screen without X-linked Disorders Invitae United States	195	98	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Broad Carrier Screen Invitae United States	224	112	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Comprehensive Carrier Screen Invitae United States	886	547	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Comprehensive Lysosomal Storage Disorders Panel Invitae United States	87	57	D Deletion/duplication analysis
Invitae Mucopolysaccharidoses Plus (MPS+) Panel Invitae United States	38	27	D Deletion/duplication analysis 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

<< First< Prev

Page 1 of 2

Results: 1 to 20 of 25

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.