Clinical and research tests for C0342788 - Genetic Testing Registry (GTR)

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Results: 21 to 40 of 120

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Invitae Rhabdomyolysis and Metabolic Myopathy Panel Invitae United States	202	128	D Deletion/duplication analysis
Invitae Cholestasis Panel Invitae United States	210	134	D Deletion/duplication analysis
Invitae Nuclear Mitochondrial Disorders Panel Invitae United States	394	319	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Hypoglycemia Panel Invitae United States	173	119	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Non-Immune Hydrops Fetalis Panel PreventionGenetics, part of Exact Sciences United States	291	148	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Hyperammonemia Panel PreventionGenetics, part of Exact Sciences United States	66	63	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Hypoglycemia Panel - Expanded PreventionGenetics, part of Exact Sciences United States	131	115	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Mitochondrial Disorders Panel (Nuclear Genes Only) PreventionGenetics, part of Exact Sciences United States	292	253	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Expanded Carrier Screening Genome-Nilou Lab Iran	110	146	C Sequence analysis of the entire coding region
Carnitine deficiency, systemic primary, 212140, Autosomal recessive; CDSP (Systemic primary carnitine deficiency) (SLC22A5 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
Carnitine deficiency, systemic primary, 212140, Autosomal recessive; CDSP (Systemic primary carnitine deficiency) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Carnitine deficiency, systemic primary, 212140, Autosomal recessive; CDSP (Systemic primary carnitine deficiency) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Carnitine deficiency, systemic primary, 212140, Autosomal recessive; CDSP (Systemic primary carnitine deficiency) (SLC22A5 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
Invitae Hyperammonemia Panel Invitae United States	75	72	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Metabolic Non-Immune Fetal Hydrops Panel Invitae United States	50	51	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
Primary Carnitine Deficiency Myriad Genetics, Inc. United States	1	1	C Sequence analysis of the entire coding region
Carnitine, plasma free and total, quantitative IU Genetic Testing Laboratories Indiana University School of Medicine United States	2	2	A Analyte
SLC22A5 - Carnitine deficiency Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	1	1	C Sequence analysis of the entire coding region
Systemic Primary Carnitine Deficiency via the SLC22A5 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

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Results: 21 to 40 of 120

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 120

Results: 21 to 40 of 120