Clinical and research tests for C1833518 - Genetic Testing Registry (GTR) - NCBI

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Results: 21 to 40 of 103

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
CPT II deficiency, lethal neonatal, 608836, Autosomal recessive (Carnitine palmitoyltransferase II deficiency) (CPT2 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
CPT II deficiency, lethal neonatal, 608836, Autosomal recessive (Carnitine palmitoyltransferase II deficiency) (CPT2 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
NeuromuscularZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States	480	254	C Sequence analysis of the entire coding region
Invitae Hyperammonemia Panel Invitae United States	75	72	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Broad Carrier Screen without X-linked Disorders Invitae United States	195	98	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Broad Carrier Screen Invitae United States	224	112	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Comprehensive Carrier Screen Invitae United States	886	547	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CPT2 - Carnitine Palmitoyltransferase deficiency type II Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	3	1	C Sequence analysis of the entire coding region
Carnitine Palmitoyltransferase II Deficiency via the CPT2 Gene PreventionGenetics, part of Exact Sciences United States	3	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
Invitae Metabolic Newborn Screening Confirmation Panel Invitae United States	201	158	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Comprehensive Myopathy Panel Invitae United States	143	70	D Deletion/duplication analysis
Invitae Fatty Acid Oxidation Defects Panel Invitae United States	28	25	D Deletion/duplication analysis
Invitae Comprehensive Neuromuscular Disorders Panel Invitae United States	353	208	D Deletion/duplication analysis
Invitae Dilated Cardiomyopathy and Left Ventricular Noncompaction Panel Invitae United States	134	54	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Cardiomyopathy Comprehensive Panel Invitae United States	198	82	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Arrhythmia and Cardiomyopathy Comprehensive Panel Invitae United States	239	100	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Hypertrophic Cardiomyopathy Panel Invitae United States	69	30	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Fatty Acid Oxidation Panel (MitomeNGS) Baylor Genetics United States	16	17	C Sequence analysis of the entire coding region
CPT2 Comprehensive - Sequence & Deletion/Duplication Analysis Baylor Genetics United States	4	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region

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Results: 21 to 40 of 103

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