Clinical and research tests for PUS1 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Myopathy, lactic acidosis, and sideroblastic anemia 1, 600462, Autosomal recessive; MLASA1 (Mitochondrial myopathy and sideroblastic anemia) (PUS1 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
Myopathy, lactic acidosis, and sideroblastic anemia 1, 600462, Autosomal recessive; MLASA1 (Mitochondrial myopathy and sideroblastic anemia) (PUS1 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
qGenEx Intellectual disability Quantitative Genomic Medicine Laboratories, SL Spain	3	1969	S Mutation scanning of the entire coding region C Sequence analysis of the entire coding region
Invitae Comprehensive Carrier Screen Labcorp Genetics (formerly Invitae) LabCorp United States	886	547	D Deletion/duplication analysis C Sequence analysis of the entire coding region
WES iron disorders Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	20	46	E Sequence analysis of select exons
WES mitochondrial disorders Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	1	369	E Sequence analysis of select exons
PUS1 - Myopathy- lactic acidosis- and sideroblastic anemia Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	1	1	C Sequence analysis of the entire coding region
panel sideroblastic anemia (ABCB7, GLRX5, HSPA9, SLC25A38, STEAP3, ALAS2, PUS1, YARS2) Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	8	8	C Sequence analysis of the entire coding region
Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Panel PreventionGenetics, part of Exact Sciences United States	107	83	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Comprehensive Neuromuscular Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	353	208	D Deletion/duplication analysis
PUS1 Sequence Analysis Baylor Genetics United States	1	1	C Sequence analysis of the entire coding region T Targeted variant analysis
PUS1 Deletion/Duplication Analysis Baylor Genetics United States	1	1	D Deletion/duplication analysis
PUS1 Sequence Analysis (Prenatal Diagnosis) Baylor Genetics United States	1	1	T Targeted variant analysis
PUS1 Comprehensive - Sequence & Deletion/Duplication Analysis Baylor Genetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
GeneAware™ Expanded Panel (Female) Baylor Genetics United States	1	422	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
GeneAware™ Expanded Panel (Male) Baylor Genetics United States	1	382	D Deletion/duplication analysis C Sequence analysis of the entire coding region
GeneAware™ Expanded Plus Panel (Female) Baylor Genetics United States	1	446	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
GeneAware™ Expanded Plus Panel (Male) Baylor Genetics United States	1	401	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Combined Mito Genome Plus Mito Focused Nuclear Gene Panel GeneDx United States	1	189	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Nuclear-Encoded Mitochondrial Disorders Panel CGC Genetics Unilabs Portugal	1	306	C Sequence analysis of the entire coding region

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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.