Clinical and research tests for C1842534 - Genetic Testing Registry (GTR) - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

<< First< Prev

Page 1 of 5

Results: 1 to 20 of 82

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Hereditary Hemolytic Anemia Comprehensive Sequencing, Varies Mayo Clinic Laboratories Mayo Clinic United States	41	40	C Sequence analysis of the entire coding region
Microcephaly Panel Genetic Services Laboratory University of Chicago United States	72	133	D Deletion/duplication analysis C Sequence analysis of the entire coding region
HemeZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine United States	107	96	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 Labcorp Genetics (formerly Invitae) LabCorp United States	971	680	D Deletion/duplication analysis
Invitae Red Blood Cell Membrane Disorders and Enzymopathies Panel Labcorp Genetics (formerly Invitae) LabCorp United States	57	28	D Deletion/duplication analysis
Invitae Neurodevelopmental Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	404	241	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 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 Hereditary Hemolytic Anemia Panel Labcorp Genetics (formerly Invitae) LabCorp United States	77	39	D Deletion/duplication analysis
Invitae Familial Hemiplegic Migraine Panel Labcorp Genetics (formerly Invitae) LabCorp 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 Labcorp Genetics (formerly Invitae) LabCorp United States	638	419	D Deletion/duplication analysis
GLUT1 deficiency syndrome 2, childhood onset, 612126, Autosomal dominant; GLUT1DS2 (Paroxysmal exertion-induced dyskinesia) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
GLUT1 deficiency syndrome 2, childhood onset, 612126, Autosomal dominant; GLUT1DS2 (Paroxysmal exertion-induced dyskinesia) (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
GLUT1 deficiency syndrome 2, childhood onset, 612126, Autosomal dominant; GLUT1DS2 (Paroxysmal exertion-induced dyskinesia) (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 2, childhood onset, 612126, Autosomal dominant; GLUT1DS2 (Paroxysmal exertion-induced dyskinesia) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
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

<< First< Prev

Page 1 of 5

Results: 1 to 20 of 82

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.