Clinical and research tests for C1849678 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
C26:0 Lyso-phosphatidylcholine Genetics Laboratory, Peroxisomal Disorders Section Kennedy Krieger Institute United States	4	1	A Analyte
very long chain fatty acids (cultured cells) Genetics Laboratory, Peroxisomal Disorders Section Kennedy Krieger Institute United States	4	2	A Analyte E Enzyme assay
ACOX1 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel Invitae United States	971	680	D Deletion/duplication analysis
Invitae Cholestasis Panel Invitae United States	210	134	D Deletion/duplication analysis
Invitae Comprehensive Deafness Panel Invitae United States	405	219	D Deletion/duplication analysis
Invitae Cerebral Palsy Spectrum Disorders Panel Invitae United States	638	419	D Deletion/duplication 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
Peroxisomal acyl-CoA oxidase deficiency, 264470, Autosomal recessive (Peroxisomal acyl-CoA oxidase deficiency) (ACOX1 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
Peroxisomal acyl-CoA oxidase deficiency, 264470, Autosomal recessive (Peroxisomal acyl-CoA oxidase deficiency) (ACOX1 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
Invitae Comprehensive Carrier Screen Invitae United States	886	547	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hereditary Hearing Loss and Deafness Panel PreventionGenetics United States	356	211	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Leukodystrophy and Leukoencephalopathy Panel PreventionGenetics United States	201	211	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Zellweger Spectrum Disorder Panel Invitae United States	36	18	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
Acyl-CoA Oxidase Deficiency via the ACOX1 Gene PreventionGenetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Peroxisomal Disorders Panel PreventionGenetics United States	36	27	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
MitoMet®Plus aCGH Analysis Baylor Genetics United States	842	637	D Deletion/duplication analysis
Targeted Variant Analysis Integrated Genetics Westborough LabCorp United States	330	746	T Targeted variant analysis

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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.