Clinical and research tests for C0268467 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Invitae Comprehensive Neurometabolic Disorders Panel Invitae United States	351	249	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Hereditary Parkinson Disease and Parkinsonism Panel Invitae United States	44	26	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hyperphenylalaninemia, BH4-deficient, B, 233910, Autosomal recessive; HPABH4B (GTP cyclohydrolase I deficiency) (GCH1 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
Hyperphenylalaninemia, BH4-deficient, B, 233910, Autosomal recessive; HPABH4B (GTP cyclohydrolase I deficiency) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Hyperphenylalaninemia, BH4-deficient, B, 233910, Autosomal recessive; HPABH4B (GTP cyclohydrolase I deficiency) (GCH1 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
Hyperphenylalaninemia, BH4-deficient, B, 233910, Autosomal recessive; HPABH4B (GTP cyclohydrolase I deficiency) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Invitae Mendelian Disorders with Psychiatric Symptoms Panel Invitae United States	247	163	D Deletion/duplication analysis C Sequence analysis of the entire coding region
GCH1 - Dystonia, dopamine responsive Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Treatable Neurometabolic Disorders Panel Invitae United States	257	191	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Neurotransmitter Disorders Panel Invitae United States	52	44	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Metabolic Newborn Screening Confirmation Panel Invitae United States	201	158	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Elevated Phenylalanine (Hyperphenylalaninemia) Panel Invitae United States	10	8	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hyperphenylalaninemia Panel PreventionGenetics, part of Exact Sciences United States	6	6	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Dystonia Comprehensive Panel Invitae United States	61	38	D Deletion/duplication analysis C Sequence analysis of the entire coding region
NGS Neurodegenerative disorders Multi-Gene Panel (73 genes) Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center, Location AMC Netherlands	41	60	C Sequence analysis of the entire coding region
Metabolic epilepsy panel. 41-gene NGS panel. Genologica Medica Spain	53	41	C Sequence analysis of the entire coding region
Hyperphenylalaninemia panel. Panel NGS genes: GCH1, PAH, PCBD1, PTS, QDPR. Genologica Medica Spain	6	5	C Sequence analysis of the entire coding region
Parkinson's disease panel. NGS panel of 22 genes. Genologica Medica Spain	45	22	C Sequence analysis of the entire coding region
Complete epilepsy panel. NGS panel of 283 genes. Genologica Medica Spain	409	283	C Sequence analysis of the entire coding region
Dystonia panel. NGS panel of 20 genes. Genologica Medica Spain	35	20	C Sequence analysis of the entire coding region

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