Clinical and research tests for C4225305 - Genetic Testing Registry (GTR) - NCBI

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Results: 1 to 18 of 18

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
POLR1C - 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 Invitae United States	971	680	D Deletion/duplication analysis
Invitae Facial Dysostosis and Frontonasal Dysplasia Panel Invitae United States	44	28	D Deletion/duplication analysis
Invitae Comprehensive Deafness Panel Invitae United States	405	219	D Deletion/duplication analysis
Leukodystrophy, hypomyelinating, 11, 616494, Autosomal recessive; HLD11 (Hypomyelination-hypogonadotropic-hypogonadism-hypodontia syndrome) (POLR1C 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
Leukodystrophy, hypomyelinating, 11, 616494, Autosomal recessive; HLD11 (Hypomyelination-hypogonadotropic-hypogonadism-hypodontia syndrome) (POLR1C 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
CraniofacialZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States	110	45	C Sequence analysis of the entire coding region
Hereditary Hearing Loss and Deafness Panel PreventionGenetics, part of Exact Sciences United States	360	222	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
POLR1C Institute for Human Genetics University Medical Center Freiburg Germany	2	1	C Sequence analysis of the entire coding region
Treacher Collins Syndrome and Mandibulofacial Dysostosis Gene Panel Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States	13	10	C Sequence analysis of the entire coding region
Panel of facial dysostosis and related disorders. NGS panel of 26 genes. Genologica Medica Spain	35	26	C Sequence analysis of the entire coding region
Skeletal diseases. NGS panel of 169 genes. Genologica Medica Spain	373	169	C Sequence analysis of the entire coding region
Craniofacial panel Al Jalila Children's Genomics Center Al Jalila Childrens Speciality Hospital United Arab Emirates	48	48	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
qGenEx Craniofacial Anomalies Quantitative Genomic Medicine Laboratories, SL Spain	135	136	C Sequence analysis of the entire coding region
POLR1C Molecular Diagnostics Lab Nemours Children's Health, Delaware United States	1	1	C Sequence analysis of the entire coding region
POLR1C - Gene sequencing Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center Netherlands	2	1	E Sequence analysis of select exons T Targeted variant analysis

Results: 1 to 18 of 18

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