Clinical and research tests for C0017925 - Genetic Testing Registry (GTR)

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Results: 21 to 40 of 42

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Glycogen Storage Diseases Gene Panel Duzen Laboratories Duzen BBAGUAS Turkey	28	26	C Sequence analysis of the entire coding region
PYGL Deletion/duplication analysis Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States	1	1	D Deletion/duplication analysis
Extended Carrier Screening HNL Genomics Connective Tissue Gene Tests United States	44	45	C Sequence analysis of the entire coding region T Targeted variant analysis
Carbohydrate Metabolism Deficiency (NGS Panel and Copy Number Analysis + mtDNA) MNG Laboratories (Medical Neurogenetics, LLC.) United States	10	52	C Sequence analysis of the entire coding region
PYGL Sequence Analysis (Familial Mutation/Variant Analysis) Baylor Genetics United States	1	1	E Sequence analysis of select exons
Ketotic Hypoglycemia panel Al Jalila Children’s Genomics Center Al Jalila Childrens Speciality Hospital United Arab Emirates	10	10	C Sequence analysis of the entire coding region
Glycogen storage disorders Al Jalila Children’s Genomics Center Al Jalila Childrens Speciality Hospital United Arab Emirates	17	17	C Sequence analysis of the entire coding region
Glycogen Storage Disease Gene Sequencing Panel Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States	19	19	C Sequence analysis of the entire coding region
Comprehensive Metabolism NGS Panel Fulgent Genetics United States	602	355	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hypoglycemia NGS Panel Fulgent Genetics United States	71	53	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Glycogen-Storage NGS Panel Fulgent Genetics United States	36	30	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Glycogen Storage Disease Type VI: gene sequencing CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	1	1	C Sequence analysis of the entire coding region
GLYCOGEN STORAGE DISEASE, TYPE 6 Laboratorio de Genetica Clinica SL Spain	1	1	C Sequence analysis of the entire coding region
Ketotic Hypoglycemia Panel Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia United States	11	11	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Glycogen storage disease type 6 Bioarray Spain	1	1	C Sequence analysis of the entire coding region
Metabolic Myopathies Panel CeGaT GmbH Germany	26	44	C Sequence analysis of the entire coding region
PYGL Institute of Human Genetics Medical University Innsbruck Austria	1	1	S Mutation scanning of the entire coding region
PYGL Single Gene Fulgent Genetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Clinical Exome Fulgent Genetics United States	5128	4672	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Intellectual Disability NGS Panel Fulgent Genetics United States	1058	554	D Deletion/duplication analysis C Sequence analysis of the entire coding region

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Results: 21 to 40 of 42

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: 21 to 40 of 42

Results: 21 to 40 of 42