Clinical and research tests for C1969809 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
HGEM, P Mayo Clinic Laboratories Mayo Clinic United States	4	1	A Analyte
HGEM, S Mayo Clinic Laboratories Mayo Clinic United States	4	1	A Analyte
HGEM, BS Mayo Clinic Laboratories Mayo Clinic United States	4	4	A Analyte
ACAD8 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoNeuro Panel Centogene AG - the Rare Disease Company Germany	1886	1858	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoIEM Panel Centogene AG - the Rare Disease Company Germany	669	688	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoMito Comprehensive Panel Centogene AG - the Rare Disease Company Germany	406	414	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoICU Panel Centogene AG - the Rare Disease Company Germany	829	848	C Sequence analysis of the entire coding region
Isobutyryl-CoA dehydrogenase deficiency, 611283 (Isobutyryl-CoA dehydrogenase deficiency) (ACAD8 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
Isobutyryl-CoA dehydrogenase deficiency, 611283 (Isobutyryl-CoA dehydrogenase deficiency) (ACAD8 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
Disorders of Fatty Acid Oxidation (FAOD) Panel PreventionGenetics, part of Exact Sciences United States	32	32	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Metabolic Newborn Screening Confirmation Panel Labcorp Genetics (formerly Invitae) LabCorp United States	201	158	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Organic Acidemias Panel Labcorp Genetics (formerly Invitae) LabCorp United States	108	97	D Deletion/duplication analysis C Sequence analysis of the entire coding region
ACAD8 Sequence and Deletion/Duplication Analysis Baylor Genetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
ACAD8 Sequence Analysis Baylor Genetics United States	1	1	C Sequence analysis of the entire coding region
ACAD8 Prenatal Sequence Analysis Baylor Genetics United States	1	1	E Sequence analysis of select exons
ACAD8 Familial Mutation/Variant Analysis Baylor Genetics United States	1	1	E Sequence analysis of select exons
ACAD8 Deletion/Duplication Analysis Baylor Genetics United States	1	1	D Deletion/duplication analysis
Fatty acid oxidation syndrome panel. NGS panel of 26 genes. Genologica Medica Spain	30	26	C Sequence analysis of the entire coding region
Fatty Acid Oxidation Disorders Gene Panel Duzen Laboratories Duzen BBAGUAS Turkey	11	9	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.