Clinical and research tests for C4551966 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Rapid microarray (CGH and SNP) Allele Diagnostics United States	247	231	D Deletion/duplication analysis H Detection of homozygosity
Glucose transporter type 1 deficiency testing (SLC2A1) Genetic Services Laboratory University of Chicago United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
MVL Vision Panel Molecular Vision Laboratory United States	1358	1028	C Sequence analysis of the entire coding region
SLC2A1 - MLPA Centogene AG - the Rare Disease Company Germany	5	1	D Deletion/duplication analysis
SLC2A1 - 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 Invitae United States	971	680	D Deletion/duplication analysis
Invitae Red Blood Cell Membrane Disorders and Enzymopathies Panel Invitae United States	57	28	D Deletion/duplication analysis
Invitae Neurodevelopmental Disorders Panel Invitae United States	404	241	D Deletion/duplication analysis
Stroke, Cerebral Hemorrhage, Hemiplegia, and Migraine Panel PreventionGenetics, part of Exact Sciences United States	345	159	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Comprehensive Neurometabolic Disorders Panel Invitae United States	351	249	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Hereditary Hemolytic Anemia Panel Invitae United States	74	39	D Deletion/duplication analysis
Invitae Familial Hemiplegic Migraine Panel Invitae United States	21	7	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Episodic Ataxia Panel PreventionGenetics, part of Exact Sciences United States	61	36	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Cerebral Palsy Spectrum Disorders Panel Invitae United States	638	419	D Deletion/duplication analysis
Epilepsy exome Genetic Services Laboratory University of Chicago United States	47	125	D Deletion/duplication analysis C Sequence analysis of the entire coding region
GLUT1 deficiency syndrome 1, infantile onset, severe, 606777, Autosomal recessive, Autosomal dominant; GLUT1DS1 (Encephalopathy due to GLUT1 deficiency) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
GLUT1 deficiency syndrome 1, infantile onset, severe, 606777, Autosomal recessive, Autosomal dominant; GLUT1DS1 (Encephalopathy due to GLUT1 deficiency) (SLC2A1 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
GLUT1 deficiency syndrome 1, infantile onset, severe, 606777, Autosomal recessive, Autosomal dominant; GLUT1DS1 (Encephalopathy due to GLUT1 deficiency) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
GLUT1 deficiency syndrome 1, infantile onset, severe, 606777, Autosomal recessive, Autosomal dominant; GLUT1DS1 (Encephalopathy due to GLUT1 deficiency) (SLC2A1 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
Top 99 Genetic Causes of Developmental Delay Panel PreventionGenetics, part of Exact Sciences United States	170	99	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis

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