Clinical and research tests for C0220754 - Genetic Testing Registry (GTR)

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Results: 21 to 40 of 136

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Invitae Cerebral Palsy Spectrum Disorders Panel Invitae United States	638	419	D Deletion/duplication analysis
Hyperammonemia Panel PreventionGenetics United States	66	63	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Lysosomal Storage Disorders Panel PreventionGenetics United States	242	146	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Expanded Carrier Screening Genome-Nilou Lab Iran	110	146	C Sequence analysis of the entire coding region
Biotinidase deficiency, 253260, Autosomal recessive (Biotinidase deficiency) (BTD 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
Biotinidase deficiency, 253260, Autosomal recessive (Biotinidase deficiency) (BTD 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
Invitae Genetic Health Screen Invitae United States	409	164	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae 78 Gene Actionable Disorders Panel Invitae United States	220	75	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Hyperammonemia Panel Invitae United States	75	72	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Biotinidase Deficiency Myriad Genetics, Inc. United States	1	1	C Sequence analysis of the entire coding region
BTD - Biotinidase deficiency Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	1	1	C Sequence analysis of the entire coding region
Ataxia Exome Genetic Services Laboratory University of Chicago United States	289	481	C Sequence analysis of the entire coding region
Invitae Treatable Neurometabolic Disorders Panel Invitae United States	257	191	D Deletion/duplication analysis C Sequence analysis of the entire coding region
qCarrier Plus Quantitative Genomic Medicine Laboratories, SL Spain	328	300	C Sequence analysis of the entire coding region
Invitae Metabolic Newborn Screening Confirmation Panel Invitae United States	201	158	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Elevated C3 Panel Invitae United States	15	19	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Elevated C5-OH Panel Invitae United States	17	15	D Deletion/duplication analysis
Invitae Organic Acidemias Panel Invitae United States	108	97	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Biotinidase Deficiency - Sequence BTD DLE - Diagnosticos Laboratoriais Especializados Brazil	1	1	C Sequence analysis of the entire coding region
MitoMet®Plus aCGH Analysis Baylor Genetics United States	842	637	D Deletion/duplication analysis

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Results: 21 to 40 of 136

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 136

Results: 21 to 40 of 136