Clinical and research tests for C0043459 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Bile Acids for Peroxisomal D/O, S Mayo Clinic Laboratories Mayo Clinic United States	2	1	A Analyte
Fatty Acid Profile, Peroxisomal, S Mayo Clinic Laboratories Mayo Clinic United States	4	1	A Analyte
Lysosomal/Peroxisomal D/O Scrn, BS Mayo Clinic Laboratories Mayo Clinic United States	10	9	A Analyte
Peroxisomal Disorder Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	4	28	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Expanded Carrier Screening Genome-Nilou Lab Iran	110	146	C Sequence analysis of the entire coding region
Hereditary Hearing Loss and Deafness Panel PreventionGenetics, part of Exact Sciences United States	362	227	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Anterior Segment Dysgenesis Disorders Panel PreventionGenetics, part of Exact Sciences United States	272	278	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Comprehensive Cataracts Panel PreventionGenetics, part of Exact Sciences United States	161	174	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Hypospadias Panel PreventionGenetics, part of Exact Sciences United States	156	73	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Leukodystrophy and Leukoencephalopathy Panel PreventionGenetics, part of Exact Sciences United States	202	212	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Differences of Sex Development (DSD) Panel PreventionGenetics, part of Exact Sciences United States	149	158	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Differences of Sex Development (DSD) and Infertility Panel PreventionGenetics, part of Exact Sciences United States	223	238	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Peroxisomal Disorders Panel PreventionGenetics, part of Exact Sciences United States	36	27	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum via the PEX5 Gene PreventionGenetics, part of Exact Sciences United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Zellweger syndrome (sequence analysis of PEX12 gene) CGC Genetics Unilabs Portugal	1	1	C Sequence analysis of the entire coding region
Zellweger syndrome (sequence analysis of PEX13 gene) CGC Genetics Unilabs Portugal	1	1	C Sequence analysis of the entire coding region
Zellweger syndrome (sequence analysis of PEX14 gene) CGC Genetics Unilabs Portugal	1	1	C Sequence analysis of the entire coding region
Zellweger syndrome (sequence analysis of PEX16 gene) CGC Genetics Unilabs Portugal	1	1	C Sequence analysis of the entire coding region
Zellweger syndrome (sequence analysis of PEX19 gene) CGC Genetics Unilabs Portugal	1	1	C Sequence analysis of the entire coding region
Zellweger syndrome (sequence analysis of PEX26 gene) CGC Genetics Unilabs Portugal	1	1	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.