Clinical and research tests for C4479270 - Genetic Testing Registry (GTR) - NCBI

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Results: 1 to 19 of 19

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
DNAJC12 - 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
Parkinson Disease Panel Centogene AG - the Rare Disease Company Germany	78	76	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Comprehensive Neurometabolic Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	351	249	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Cerebral Palsy Spectrum Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	638	419	D Deletion/duplication analysis
Hyperphenylalaninemia, mild, non-BH4-deficient, 617384; HPANBH4 (DNAJC12 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, mild, non-BH4-deficient, 617384; HPANBH4 (DNAJC12 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
Invitae Mendelian Disorders with Psychiatric Symptoms Panel Labcorp Genetics (formerly Invitae) LabCorp United States	247	163	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Parkinson Disease and Parkinsonism Panel PreventionGenetics, part of Exact Sciences United States	68	70	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Treatable Neurometabolic Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	257	191	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Neurotransmitter Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	52	44	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hyperphenylalaninemia via the DNAJC12 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
Dystonia Exome Genetic Services Laboratory University of Chicago United States	93	170	C Sequence analysis of the entire coding region
Invitae Metabolic Newborn Screening Confirmation Panel Labcorp Genetics (formerly Invitae) LabCorp United States	201	158	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Elevated Phenylalanine (Hyperphenylalaninemia) Panel Labcorp Genetics (formerly Invitae) LabCorp 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
Hyperphenylalaninemia, mild, non-BH4-deficient Laboratorio de Genetica Clinica SL Spain	1	1	C Sequence analysis of the entire coding region
Hyperphenylalaninemia, mild, non-BH4-deficient (DNAJC12 gene) Amsterdam UMC, Location AMC Laboratory Genetic Metabolic Diseases, LGMD Netherlands	1	1	A Analyte C Sequence analysis of the entire coding region
DNAJC12 Sequencing Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States	1	1	C Sequence analysis of the entire coding region T Targeted variant analysis

Results: 1 to 19 of 19

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