Clinical and research tests for C1863844 - Genetic Testing Registry (GTR)

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Results: 21 to 40 of 55

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
SLC25A13 Prenatal Sequence Analysis (GeneAware) (Prenatal Sequence Analysis) Baylor Genetics United States	1	1	E Sequence analysis of select exons
Mitochondrial Panel, Nuclear genes CNH Molecular Diagnostics Laboratory Childrens National Hospital United States	145	134	C Sequence analysis of the entire coding region
Cholestasis panel Al Jalila Children's Genomics Center Al Jalila Childrens Speciality Hospital United Arab Emirates	23	23	C Sequence analysis of the entire coding region
Hereditary hepatic diseases (55 genes) Center for Human Genetics Cliniques Universitaires Saint Luc Belgium	36	55	C Sequence analysis of the entire coding region
Comprehensive Metabolism NGS Panel Fulgent Genetics United States	602	355	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hyperammonemia and Urea Cycle Disorder NGS Panel Fulgent Genetics United States	70	56	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Beacon Expanded Female Carrier Screening Plus Panel Fulgent Genetics United States	716	335	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Beacon Expanded Male Carrier Screening Panel Fulgent Genetics United States	636	298	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Beacon Expanded Male Carrier Screening Plus Panel Fulgent Genetics United States	661	306	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Beacon Expanded Female Carrier Screening Panel Fulgent Genetics United States	690	326	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Citrullinemia, type II (SLC25A13) Amsterdam UMC, Location AMC Laboratory Genetic Metabolic Diseases, LGMD Netherlands	1	1	A Analyte C Sequence analysis of the entire coding region
Urea Cycle Disorders , Panel Massive Sequencing (NGS) 8 Genes Reference Laboratory Genetics Spain	9	8	C Sequence analysis of the entire coding region
Urea Cycle Disorder Asper Biogene Asper Biogene LLC Estonia	11	10	C Sequence analysis of the entire coding region
Citrin Deficiency Asper Biogene Asper Biogene LLC Estonia	1	1	C Sequence analysis of the entire coding region
CITRULLINEMIA TYPE 2 Laboratorio de Genetica Clinica SL Spain	2	1	C Sequence analysis of the entire coding region
Citrullinemia Type 2, Screening Mutations SLC25A13 Gene Reference Laboratory Genetics Spain	1	1	E Sequence analysis of select exons
Citrullinemia Type 2, Sequencing SLC25A13 Gene Reference Laboratory Genetics Spain	1	1	C Sequence analysis of the entire coding region
GeneAware Complete Panel Version 2 (Male) Baylor Genetics United States	164	149	D Deletion/duplication analysis C Sequence analysis of the entire coding region
GeneAware Complete Panel Version 2 (Female) Baylor Genetics United States	175	159	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Cholestasis Panel Blueprint Genetics Finland	8	46	D Deletion/duplication analysis 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