Clinical and research tests for C1843851 - Genetic Testing Registry (GTR) - NCBI

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

<< First< Prev

Page 1 of 8

Results: 1 to 20 of 147

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
MVL Vision Panel Molecular Vision Laboratory United States	1358	1028	C Sequence analysis of the entire coding region
POLG - 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
Carrier Screening Guidelines-Based Panel Ambry Genetics United States	199	164	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 Rhabdomyolysis and Metabolic Myopathy Panel Invitae United States	202	128	D Deletion/duplication analysis
Invitae Cholestasis Panel Invitae United States	210	134	D Deletion/duplication analysis
Invitae Neurodevelopmental Disorders Panel Invitae United States	404	241	D Deletion/duplication analysis
Invitae Nuclear Mitochondrial Disorders Panel Invitae United States	394	319	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Comprehensive Neurometabolic Disorders Panel Invitae United States	351	249	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Comprehensive Deafness Panel Invitae United States	405	219	D Deletion/duplication analysis
Invitae Cerebral Palsy Spectrum Disorders Panel Invitae United States	638	419	D Deletion/duplication analysis
Cholestasis Panel PreventionGenetics, part of Exact Sciences United States	130	69	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Mitochondrial Disorders Panel (Nuclear Genes Only) PreventionGenetics, part of Exact Sciences United States	292	253	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), 607459, Autosomal recessive (Spinocerebellar ataxia with epilepsy) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), 607459, Autosomal recessive (Spinocerebellar ataxia with epilepsy) (POLG 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
Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), 607459, Autosomal recessive (Spinocerebellar ataxia with epilepsy) (POLG 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
Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), 607459, Autosomal recessive (Spinocerebellar ataxia with epilepsy) (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
Invitae Broad Carrier Screen without X-linked Disorders Invitae United States	195	98	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Broad Carrier Screen Invitae United States	224	112	D Deletion/duplication analysis C Sequence analysis of the entire coding region

<< First< Prev

Page 1 of 8

Results: 1 to 20 of 147

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.