Clinical and research tests for C2751643 - Genetic Testing Registry (GTR)

Page 2 of 3

Results: 21 to 40 of 49

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Glycogen Storage Disease Type IX via the PHKG2 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
Inherited Metabolic Disorders Panel Dhiti Omics Technologies Private Ltd India	376	317	C Sequence analysis of the entire coding region
Metabolic liver failure panel. 16-gene NGS panel. Genologica Medica Spain	19	16	C Sequence analysis of the entire coding region
Glycogen storage disorder panel. 29-gene NGS panel. Genologica Medica Spain	33	29	C Sequence analysis of the entire coding region
Hypoglycemia, hyperinsulinism, and ketone metabolism panel. NGS panel of 50 genes. Genologica Medica Spain	73	50	C Sequence analysis of the entire coding region
Glycogenosis (inherited metabolic disorders). NGS panel of 24 genes. Genologica Medica Spain	30	24	C Sequence analysis of the entire coding region
General panel of metabolic myopathies Genologica Medica Spain	114	110	C Sequence analysis of the entire coding region
Glycogen Storage Disorders Panel, Sequencing ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories United States	40	32	C Sequence analysis of the entire coding region
Glycogen Storage Diseases Gene Panel Duzen Laboratories Duzen BBAGUAS Turkey	28	26	C Sequence analysis of the entire coding region
PHKG2 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
PHKG2 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 Asper Biogene Asper Biogene LLC Estonia	25	25	C Sequence analysis of the entire coding region
GLYCOGEN STORAGE DISEASE, TYPE 9C Laboratorio de Genetica Clinica SL Spain	1	1	C Sequence analysis of the entire coding region

<< First < Prev

Page 2 of 3

Next >Last >>

Results: 21 to 40 of 49

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.

Filters

Test type

Test purpose

Test method

Biochemical Genetics

Molecular Genetics

Test service

Laboratory certification

Specimen type

Laboratory location

Other countries

Results: 21 to 40 of 49

Results: 21 to 40 of 49