Clinical and research tests for C2750452 - Genetic Testing Registry (GTR)

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Results: 21 to 40 of 55

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Leukodystrophy and leukoencephalopathy panel. NGS panel of 74 genes. Genologica Medica Spain	96	74	C Sequence analysis of the entire coding region
Craniosynostosis panel. NGS panel of 37 genes. Genologica Medica Spain	113	37	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
Mitochondrial genome sequencing Molecular Vision Laboratory United States	526	339	C Sequence analysis of the entire coding region
Kallmann Syndrome Genetic Panel MNG Laboratories (Medical Neurogenetics, LLC.) United States	25	24	C Sequence analysis of the entire coding region
Kallmann Syndrome Asper Biogene Asper Biogene LLC Estonia	27	25	C Sequence analysis of the entire coding region
Waardenburg syndrome Al Jalila Children's Genomics Center Al Jalila Childrens Speciality Hospital United Arab Emirates	7	6	C Sequence analysis of the entire coding region
Waardenburg syndrome: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	10	7	C Sequence analysis of the entire coding region
Kallmann Syndrome & Hypogonadotropic Hypogonadism NGS Panel Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States	34	39	C Sequence analysis of the entire coding region
Syndromic Hearing Loss NGS Panel Fulgent Genetics United States	223	83	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Comprehensive Hearing Loss NGS Panel Fulgent Genetics United States	332	167	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
Hearing Loss Advanced Sequencing and CNV Evaluation Athena Diagnostics Inc United States	249	184	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Waardenburg Syndrome , Panel Massive Sequencing (NGS) 6 Genes Reference Laboratory Genetics Spain	8	6	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
WAARDENBURG-SHAH SYNDROME, NEUROLOGICAL VARIANT (TYPE 4) Laboratorio de Genetica Clinica SL Spain	3	3	C Sequence analysis of the entire coding region
Waardenburg Syndrome Type 4C , Sequencing SOX10 Gene Reference Laboratory Genetics Spain	1	1	C Sequence analysis of the entire coding region
Waardenburg Syndrome Panel Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia United States	9	6	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Waardenburg Syndrome panel Molecular Vision Laboratory United States	19	7	C Sequence analysis of the entire coding region
Hearing Loss NGS Panel Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States	198	157	C Sequence analysis of the entire coding region

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Results: 21 to 40 of 55

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.

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Results: 21 to 40 of 55

Results: 21 to 40 of 55