Clinical and research tests for 51099 - Genetic Testing Registry (GTR)

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Results: 21 to 40 of 78

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
WES metabolic disorders Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	1	625	E Sequence analysis of select exons
Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Panel PreventionGenetics, part of Exact Sciences United States	106	83	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Comprehensive Neuromuscular Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	353	208	D Deletion/duplication analysis
Congenital Ichthyosis and Related Disorders Panel PreventionGenetics, part of Exact Sciences United States	20	19	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Metabolic Diseases Panel CGC Genetics Unilabs Portugal	1	837	C Sequence analysis of the entire coding region
Movement diseases (WES based NGS panel of 931 genes, including CNV analysis) CGC Genetics Unilabs Portugal	10	930	C Sequence analysis of the entire coding region
Neuromuscular diseases panel_v.2.0 CGC Genetics Unilabs Portugal	17	248	C Sequence analysis of the entire coding region
Intellectual Disability Panel CGC Genetics Unilabs Portugal	1	1307	C Sequence analysis of the entire coding region
Hereditary ichthyosis (WES based NGS panel of 57 genes, including CNV analysis) CGC Genetics Unilabs Portugal	1	57	C Sequence analysis of the entire coding region
Myopathies panel CGC Genetics Unilabs Portugal	1	181	C Sequence analysis of the entire coding region
Dermatology Panel CGC Genetics Unilabs Portugal	1	277	C Sequence analysis of the entire coding region
Arthrogryposis (WES based NGS panel for 240 genes, including CNV analysis) CGC Genetics Unilabs Portugal	1	240	C Sequence analysis of the entire coding region
Chanarin-Dorfman syndrome (sequence analysis of ABHD5 gene) CGC Genetics Unilabs Portugal	1	1	C Sequence analysis of the entire coding region
Congenital Ichthyosis Slice GeneDx United States	1	49	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Neuromuscular Diseases Panel (Expanded) Mendelics Brazil	1	288	C Sequence analysis of the entire coding region
Ichthyosis and Ectodermal Dysplasia Panel Mendelics Brazil	2	58	C Sequence analysis of the entire coding region
HEREDITARY ATAXIAS EXOME PANEL Laboratorio de Genetica Clinica SL Spain	1	1202	E Sequence analysis of select exons
MUSCULAR DISORDERS- EMCG GLOBAL EXOME PANEL Laboratorio de Genetica Clinica SL Spain	1	416	E Sequence analysis of select exons
ARTHROGRIPOSIS PANEL Laboratorio de Genetica Clinica SL Spain	1	245	E Sequence analysis of select exons
MUSCULAR DYSTROPHIES/ MYOPATHIES PANEL Laboratorio de Genetica Clinica SL Spain	1	250	E Sequence analysis of select exons

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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.

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Results: 21 to 40 of 78

Results: 21 to 40 of 78