Clinical and research tests for C0026709 - Genetic Testing Registry (GTR) - NCBI

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

<< First < Prev

Page 2 of 4

Results: 21 to 40 of 79

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Lysosomal Storage Disorders Panel PreventionGenetics, part of Exact Sciences United States	242	146	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Mucopolysaccharidosis type VI (Maroteaux-Lamy), 253200, Autosomal recessive; MPS6 (Mucopolysaccharidosis type 6) (ARSB gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
Mucopolysaccharidosis type VI (Maroteaux-Lamy), 253200, Autosomal recessive; MPS6 (Mucopolysaccharidosis type 6) (ARSB gene) (Sequence Analysis-All Coding Exons) (Prenatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
Invitae Metabolic Non-Immune Fetal Hydrops Panel Invitae United States	50	51	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
Mucopolysaccharidosis NGS panel HNL Genomics Connective Tissue Gene Tests United States	17	14	C Sequence analysis of the entire coding region T Targeted variant analysis
Mucopolysaccharidosis Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	17	14	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Mucopolysaccharidosis Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	17	14	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
qCarrier Plus Quantitative Genomic Medicine Laboratories, SL Spain	328	300	C Sequence analysis of the entire coding region
Mucopolysaccharidosis Type VI / Maroteaux-Lamy Syndrome via the ARSB Gene PreventionGenetics, part of Exact Sciences United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
ARSB Institute for Human Genetics University Medical Center Freiburg Germany	1	1	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

<< First < Prev

Page 2 of 4

Results: 21 to 40 of 79

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.