Clinical and research tests for C1842124 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Hearing Loss, Comprehensive Panel CNH Molecular Diagnostics Laboratory Childrens National Hospital United States	142	84	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
Branchio-oto-renal (BOR) syndrome Al Jalila Children's Genomics Center Al Jalila Childrens Speciality Hospital United Arab Emirates	3	3	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
Nonsyndromic Hearing Loss NGS Panel Fulgent Genetics United States	146	99	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Renal Malformation NGS Panel Fulgent Genetics United States	43	15	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Kidney Dysplasia NGS Panel Fulgent Genetics United States	68	41	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Branchiootorenal Spectrum Disorders NGS Panel Fulgent Genetics United States	6	3	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Frazer Syndrome Asper Biogene Asper Biogene LLC Estonia	12	7	C Sequence analysis of the entire coding region
Hearing Loss Advanced Sequencing and CNV Evaluation Athena Diagnostics United States	249	184	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Branchiootorenal Spectrum Disorders, Panel Massive Sequencing (NGS) EYA1, SIX1, SIX5 Genes Reference Laboratory Genetics Spain	5	3	C Sequence analysis of the entire coding region
BOR SYNDROME (BRANCHIO-OTO-RENAL) Laboratorio de Genetica Clinica SL Spain	3	3	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Branchiootic Syndrome Type 3 , Sequencing SIX1 Gene Reference Laboratory Genetics Spain	1	1	C Sequence analysis of the entire coding region
Craniofacial Panel Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia United States	47	44	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Branchiootorenal Spectrum Disorder Panel Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia United States	3	3	D Deletion/duplication analysis 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
Branchiootorenal Syndrome Asper Biogene Asper Biogene LLC Estonia	3	3	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Branchiootorenal Syndrome Panel CeGaT GmbH Germany	4	4	C Sequence analysis of the entire coding region
SIX1 Deletion/duplication analysis Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States	2	1	D Deletion/duplication analysis

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Results: 21 to 40 of 45

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.