Clinical and research tests for 607694 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, 607694, Autosomal recessive; HLD7 (Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome) (POLR3A gene) (Sequence Analysis-All Coding Exons) (Po Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, 607694, Autosomal recessive; HLD7 (Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome) (POLR3A gene) (Sequence Analysis-All Coding Exons) (Pr Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
CYP7B1 Gene SPG5A NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
POLR3A - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	2	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 Inborn Errors of Immunity and Cytopenias Panel Labcorp Genetics (formerly Invitae) LabCorp United States	754	562	D Deletion/duplication analysis
Invitae Hypogonadotropic Hypogonadism Panel Labcorp Genetics (formerly Invitae) LabCorp United States	67	46	D Deletion/duplication analysis
Hypomyelinating Leukodystrophy 7, with or without Oligodontia and/or Hypogonadotropic Hypogonadism via the POLR3A 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
Invitae Cerebral Palsy Spectrum Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	638	419	D Deletion/duplication analysis
Leukodystrophy and Leukoencephalopathy, Adult Onset Panel PreventionGenetics, part of Exact Sciences United States	46	37	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Leukodystrophy and Leukoencephalopathy Panel PreventionGenetics, part of Exact Sciences United States	202	212	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Primary Immunodeficiency Panel Labcorp Genetics (formerly Invitae) LabCorp United States	552	424	D Deletion/duplication analysis
Leukodystrophy and leukoencephalopathy panel. NGS panel of 74 genes. Genologica Medica Spain	96	74	C Sequence analysis of the entire coding region
Complete epilepsy panel. NGS panel of 283 genes. Genologica Medica Spain	409	283	C Sequence analysis of the entire coding region
Leukodystrophy, hypomyelinating: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	18	18	C Sequence analysis of the entire coding region
Early-Onset Ataxia NGS Panel Fulgent Genetics United States	505	132	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hypomyelinating Leukodystrophy NGS Panel Fulgent Genetics United States	225	62	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Ataxia NGS Panel Fulgent Genetics United States	533	149	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Leukodystrophy and Leukoencephalopathy Asper Biogene Asper Biogene LLC Estonia	47	39	C Sequence analysis of the entire coding region
Hereditary Ataxia Asper Biogene Asper Biogene LLC Estonia	180	139	C Sequence analysis of the entire coding region

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