Clinical and research tests for 615007 - Genetic Testing Registry (GTR) - NCBI

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Results: 1 to 18 of 18

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Basal ganglia calcification, idiopathic, 4, 615007, Autosomal dominant; IBGC4 (Bilateral striopallidodentate calcinosis) (PDGFRB 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
Basal ganglia calcification, idiopathic, 4, 615007, Autosomal dominant; IBGC4 (Bilateral striopallidodentate calcinosis) (PDGFRB 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
PDGFRB - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	5	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel Labcorp Genetics (formerly Invitae) LabCorp United States	971	680	D Deletion/duplication analysis
Stroke, Cerebral Hemorrhage, Hemiplegia, and Migraine Panel PreventionGenetics, part of Exact Sciences United States	346	160	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Overgrowth Syndromes Panel Labcorp Genetics (formerly Invitae) LabCorp United States	96	53	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Parkinson Disease and Parkinsonism Panel PreventionGenetics, part of Exact Sciences United States	70	71	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Idiopathic Basal Ganglia Calcification Panel PreventionGenetics, part of Exact Sciences United States	4	4	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Infantile Myofibromatosis and Idiopathic Basal Ganglia Calcification via the PDGFRB Gene PreventionGenetics, part of Exact Sciences United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Parkinson's disease panel. NGS panel of 22 genes. Genologica Medica Spain	45	22	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
PDGFRB gene mutations Duzen Laboratories Duzen BBAGUAS Turkey	4	1	T Targeted variant analysis
Basal Ganglia Calcification Dystonia (NGS Panel and Copy Number Analysis) MNG Laboratories (Medical Neurogenetics, LLC.) United States	5	63	C Sequence analysis of the entire coding region
Vascular Anomalies (VANseq) Expanded Del/Dup Panel Seattle Children's Hospital Genetics Laboratories Seattle Children's United States	50	47	D Deletion/duplication analysis
Vascular Anomalies (VANseq) Expanded Sequencing Panel Seattle Children's Hospital Genetics Laboratories Seattle Children's United States	50	47	C Sequence analysis of the entire coding region
Basal ganglia calcification, idiopathic: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	5	5	C Sequence analysis of the entire coding region
BILATERAL STRIOPALLIDODENTATE CALCINOSIS (BSPDC) Laboratorio de Genetica Clinica SL Spain	4	4	C Sequence analysis of the entire coding region
Basal ganglia calcification Panel CeGaT GmbH Germany	53	31	C Sequence analysis of the entire coding region

Results: 1 to 18 of 18

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