Clinical and research tests for C0086651 - Genetic Testing Registry (GTR)

Results: 1 to 13 of 13

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Morquio-A: Common mutation Institute of Human Genetics Foundation for Research in Genetics and Endocrinology India	1	1	T Targeted variant analysis
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
Non-Immune Hydrops Fetalis Panel PreventionGenetics United States	291	148	D Deletion/duplication analysis 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 NGS panel HNL Genomics Connective Tissue Gene Tests United States	17	14	C Sequence analysis of the entire coding region T Targeted variant 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
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
GALNS Sequence Analysis (Prenatal Diagnosis) Baylor Genetics United States	1	1	T Targeted variant analysis
GALNS Sequence Analysis (Familial Mutation/Variant Analysis) Baylor Genetics United States	1	1	T Targeted variant analysis
Mucopolysaccharidosis Type IVA / Morquio Type A Disease via the GALNS Gene PreventionGenetics United States	1	1	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

Results: 1 to 13 of 13

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.

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Results: 1 to 13 of 13

Results: 1 to 13 of 13