Clinical and research tests for C2750069 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Mixed hyperlipidemias Health in Code Spain	11	13	C Sequence analysis of the entire coding region
CAVIN1 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoNeuro Panel Centogene AG - the Rare Disease Company Germany	1886	1858	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoIEM Panel Centogene AG - the Rare Disease Company Germany	669	688	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoMito Comprehensive Panel Centogene AG - the Rare Disease Company Germany	406	414	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoICU Panel Centogene AG - the Rare Disease Company Germany	829	848	C Sequence analysis of the entire coding region
Dyslipidemia panel Genetic Services Laboratory University of Chicago United States	17	29	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Lipodystrophy, congenital generalized, type 4, 613327, Autosomal recessive; CGL4 (Generalized congenital lipodystrophy with myopathy) (PTRF gene) (Sequence Analysis-All Coding Exons) (Prenatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
Lipodystrophy, congenital generalized, type 4, 613327, Autosomal recessive; CGL4 (Generalized congenital lipodystrophy with myopathy) (PTRF gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
Generalized, Partial and Atypical Lipodystrophy Panel PreventionGenetics, part of Exact Sciences United States	57	29	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
NeuromuscularZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States	480	254	C Sequence analysis of the entire coding region
Congenital Generalized Lipodystrophy (CGL) Panel PreventionGenetics, part of Exact Sciences United States	33	9	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Congenital Generalized Lipodystrophy (CGL) via the CAVIN1 (PTRF) 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 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
Comprehensive Neuromuscular Panel PreventionGenetics, part of Exact Sciences United States	183	142	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
MitoMet®Plus aCGH Analysis Baylor Genetics United States	842	637	D Deletion/duplication analysis
Lipodystrophy Panel Genetic Services Laboratory University of Chicago United States	17	20	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Lipodystrophy, congenital Berardinelli-Seip type 4, with muscular dystrophy (sequence analysis of PTRF gene) CGC Genetics Unilabs Portugal	1	1	C Sequence analysis of the entire coding region
Congenital and familial lipodystrophy panel. NGS panel of 11 genes. Genologica Medica Spain	29	11	C Sequence analysis of the entire coding region
Congenital Genaralized Lipodystrophy Type 4 Genetiks Genetic Diagnosis Center Genetic Diseases Evaluation Center Turkey	1	1	C Sequence analysis of the entire coding region

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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.