Clinical and research tests for C1845151 - Genetic Testing Registry (GTR) - NCBI

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Results: 21 to 40 of 52

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Glycogen Storage Disease Type IX via the PHKA1 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
Metabolic myopathy and rhabdomyolysis panel. NGS panel of 52 genes. Genologica Medica Spain	89	52	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
PHKA1 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
PHKA1 Gene Sequencing by Massively Parallel Sequencing (BCM-NGSSM) Baylor Genetics United States	1	1	E Sequence analysis of select exons
PHKA1 Sequence Analysis (Familial Mutation/Variant Analysis) Baylor Genetics United States	1	1	E Sequence analysis of select exons
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
Glycogen-Storage NGS Panel Fulgent Genetics United States	36	30	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Phosphorylase Kinase Deficiency , Panel Massive Sequencing (NGS) PHKA1, PHKA2, PHKB, PHKG2 Genes Reference Laboratory Genetics Spain	4	4	C Sequence analysis of the entire coding region
Muscle Polyneuropathies , Panel Massive Sequencing (NGS) 111 Genes Reference Laboratory Genetics Spain	159	111	C Sequence analysis of the entire coding region
Congenital Myopathy , Panel Massive Sequencing (NGS) 26 Genes Reference Laboratory Genetics Spain	24	26	C Sequence analysis of the entire coding region
Metabolic Myopathy and Rhabdomyolysis Asper Biogene Asper Biogene LLC Estonia	63	44	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

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Results: 21 to 40 of 52

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.