Clinical and research tests for C0022716 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Stroke, Cerebral Hemorrhage, Hemiplegia, and Migraine Panel PreventionGenetics United States	345	159	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Bone Fragility and Fracture Panel PreventionGenetics United States	87	74	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Hypoglycemia Panel - Expanded PreventionGenetics United States	126	111	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Mitochondrial Disorders Panel (Nuclear Genes Only) PreventionGenetics United States	292	253	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Disorders of Copper Metabolism Panel PreventionGenetics United States	9	6	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Brain Malformation Panel PreventionGenetics United States	79	52	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Connective Tissue Disorders Panel PreventionGenetics United States	166	101	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Anterior Segment Dysgenesis Disorders Panel PreventionGenetics United States	272	278	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Hypopigmentation Panel PreventionGenetics United States	39	33	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Menkes disease NGS Test HNL Genomics Connective Tissue Gene Tests United States	1	1	C Sequence analysis of the entire coding region T Targeted variant analysis
Menkes disease Comprehensive Test HNL Genomics Connective Tissue Gene Tests United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Menkes disease Deletion / Duplication Test HNL Genomics Connective Tissue Gene Tests United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Leukodystrophy and Leukoencephalopathy Panel PreventionGenetics United States	201	211	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
X-Linked Intellectual Disability Panel PreventionGenetics United States	191	141	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Early Infantile Epileptic Encephalopathy Panel PreventionGenetics United States	144	124	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
ATP7A Sequence Analysis (Prenatal Diagnosis) Baylor Genetics United States	3	1	T Targeted variant analysis
ATP7A Sequence Analysis Baylor Genetics United States	3	1	C Sequence analysis of the entire coding region T Targeted variant analysis
Menkes Disease and Hereditary Motor Neuropathy via the ATP7A Gene PreventionGenetics United States	3	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

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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.