Clinical and research tests for 610150 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Meckel syndrome 5 (sequence analysis of RPGRIP1L gene) CGC Genetics Unilabs Portugal	1	1	C Sequence analysis of the entire coding region
CCT5 Gene Neuropathy, hereditary sensory, with spastic paraplegia NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
Sensory Neuropathy Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	25	25	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CCT5 - 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
CentoIEM Panel Centogene AG - the Rare Disease Company Germany	669	688	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Ataxia / Spastic Paraplegia Comprehensive Panel Centogene AG - the Rare Disease Company Germany	451	452	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Ataxia / Spastic Paraplegia Panel Centogene AG - the Rare Disease Company Germany	442	443	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
Complex Hereditary Spastic Paraplegia Panel PreventionGenetics, part of Exact Sciences United States	72	87	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Hereditary Spastic Paraplegia Comprehensive Panel PreventionGenetics, part of Exact Sciences United States	87	106	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Neuropathy, hereditary sensory, with spastic paraplegia, 256840, Autosomal recessive (Hereditary sensory and autonomic neuropathy with spastic paraplegia) (CCT5 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
Genomic Unity Motor Neuron Disorders Analysis (includes AR, C9ORF72 STR analysis) Variantyx, Inc. United States	14	118	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region
Comprehensive Neuropathy Panel PreventionGenetics, part of Exact Sciences United States	82	71	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Hereditary Sensory Neuropathy with Spastic Paraplegia via the CCT5 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
Hereditary Sensory and Autonomic Neuropathy Panel PreventionGenetics, part of Exact Sciences United States	20	20	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Cerebral Palsy Spectrum Disorders Panel Baylor Genetics United States	1	419	C Sequence analysis of the entire coding region
Neuropathy Panel Mendelics Brazil	1	104	C Sequence analysis of the entire coding region
HEREDITARY SENSORY-AUTONOMIC NEUROPATHY EXOME PANEL Laboratorio de Genetica Clinica SL Spain	1	30	E Sequence analysis of select exons
SPASTIC PARAPARESIS EXOME PANEL Laboratorio de Genetica Clinica SL Spain	1	160	E Sequence analysis of select exons

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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.