Clinical and research tests for 1070 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Yq microdeletion Molecular Diagnostic Laboratory Diagnostic Services, Shared Health Manitoba Canada	1	1	D Deletion/duplication analysis
Hereditary Hearing Loss Molecular Diagnostic Laboratory Diagnostic Services, Shared Health Manitoba Canada	1	2	C Sequence analysis of the entire coding region T Targeted variant analysis
Spinocerebellar ataxia type 8 Molecular Diagnostic Laboratory Diagnostic Services, Shared Health Manitoba Canada	1	1	T Targeted variant analysis
Hypophosphatasia Molecular Diagnostic Laboratory Diagnostic Services, Shared Health Manitoba Canada	1	1	T Targeted variant analysis
Charcot Marie Tooth type 1A Molecular Diagnostic Laboratory Diagnostic Services, Shared Health Manitoba Canada	1	1	T Targeted variant analysis
Angelman syndrome Molecular Diagnostic Laboratory Diagnostic Services, Shared Health Manitoba Canada	1	1	D Deletion/duplication analysis M Methylation analysis U Uniparental disomy study (UPD)
Prader-Willi syndrome Molecular Diagnostic Laboratory Diagnostic Services, Shared Health Manitoba Canada	1	1	D Deletion/duplication analysis M Methylation analysis U Uniparental disomy study (UPD)
Spinocerebellar ataxia type 7 Molecular Diagnostic Laboratory Diagnostic Services, Shared Health Manitoba Canada	1	1	T Targeted variant analysis
Spinocerebellar ataxia type 6 Molecular Diagnostic Laboratory Diagnostic Services, Shared Health Manitoba Canada	1	1	T Targeted variant analysis
Spinocerebellar ataxia type 3 Molecular Diagnostic Laboratory Diagnostic Services, Shared Health Manitoba Canada	1	1	T Targeted variant analysis
Spinocerebellar ataxia type 2 Molecular Diagnostic Laboratory Diagnostic Services, Shared Health Manitoba Canada	1	1	T Targeted variant analysis
Spinocerebellar ataxia type 1 Molecular Diagnostic Laboratory Diagnostic Services, Shared Health Manitoba Canada	1	1	T Targeted variant analysis
Oculopharyngeal muscular dystrophy Molecular Diagnostic Laboratory Diagnostic Services, Shared Health Manitoba Canada	1	1	T Targeted variant analysis
HFE-related hereditary hemochromatosis Molecular Diagnostic Laboratory Diagnostic Services, Shared Health Manitoba Canada	1	1	T Targeted variant analysis
Hereditary Neuropathy with Tendency to Pressure Palsies Molecular Diagnostic Laboratory Diagnostic Services, Shared Health Manitoba Canada	1	1	D Deletion/duplication analysis
Apolipoprotein E Molecular Diagnostic Laboratory Diagnostic Services, Shared Health Manitoba Canada	1	1	T Targeted variant analysis
myotonic dystrophy type 1 Molecular Diagnostic Laboratory Diagnostic Services, Shared Health Manitoba Canada	1	1	T Targeted variant analysis
Kennedy disease Molecular Diagnostic Laboratory Diagnostic Services, Shared Health Manitoba Canada	1	1	T Targeted variant analysis
Huntington disease Molecular Diagnostic Laboratory Diagnostic Services, Shared Health Manitoba Canada	1	1	T Targeted variant analysis
CFTR-related disorders Molecular Diagnostic Laboratory Diagnostic Services, Shared Health Manitoba Canada	5	1	L Linkage analysis E Sequence analysis of select exons 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.