Clinical and research tests for 601987 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
SPAST Gene SPG4 NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
CPT1B Gene Carnitine palmitoyltransferase 1B deficiency NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
CPT1B - Carnitine Palmitoyltransferase deficiency type Ib Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	1	1	C Sequence analysis of the entire coding region
Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Panel PreventionGenetics, part of Exact Sciences United States	239	158	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Fatty Acid Oxidation Panel (MitomeNGS) Baylor Genetics United States	16	17	C Sequence analysis of the entire coding region
Myopathies panel CGC Genetics Unilabs Portugal	1	181	C Sequence analysis of the entire coding region
Rhabdomyolysis and metabolic muscle diseases (WES based NGS panel of 55 genes, including CNV analysis) CGC Genetics Unilabs Portugal	1	55	C Sequence analysis of the entire coding region
Carnitine palmitoyltransferase I deficiency (deletion/duplication analysis on CPT1B gene) CGC Genetics Unilabs Portugal	1	1	D Deletion/duplication analysis
Carnitine palmitoyltransferase IB deficiency (sequence analysis of CPT1B gene) CGC Genetics Unilabs Portugal	1	1	C Sequence analysis of the entire coding region
MUSCULAR DISORDERS- EMCG GLOBAL EXOME PANEL Laboratorio de Genetica Clinica SL Spain	1	416	E Sequence analysis of select exons
MITOCHONDRIAL DISEASES PANEL (NUCLEAR GENES) Laboratorio de Genetica Clinica SL Spain	1	1372	E Sequence analysis of select exons
CPT1B Sequence Analysis (Familial Mutation/Variant Analysis) Baylor Genetics United States	1	1	E Sequence analysis of select exons
CPT1B Comprehensive - Sequence & Deletion/Duplication Analysis Baylor Genetics United States	1	1	E Sequence analysis of select exons
CPT1B Deletion/Duplication Analysis Baylor Genetics United States	1	1	E Sequence analysis of select exons
CPT1B Sequence Analysis Baylor Genetics United States	1	1	E Sequence analysis of select exons
CPT1B Sequence Analysis (Prenatal Diagnosis) Baylor Genetics United States	1	1	E Sequence analysis of select exons
Autism/ID Xpanded Panel GeneDx United States	2	2592	D Deletion/duplication analysis C Sequence analysis of the entire coding region
NewbornDx Advanced Sequencing Evaluation Athena Diagnostics United States	1	1722	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
Lipid Metabolism Deficiency NGS Panel Fulgent Genetics United States	80	71	D Deletion/duplication analysis 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.