Clinical and research tests for C5774181 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
MVL Vision Panel Molecular Vision Laboratory United States	1358	1028	C Sequence analysis of the entire coding region
CentoVision Panel Centogene AG - the Rare Disease Company Germany	417	413	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoDysmorph Panel Centogene AG - the Rare Disease Company Germany	740	728	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Microphthalmia/Anophthalmia/Coloboma Panel PreventionGenetics, part of Exact Sciences United States	73	55	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Microphthalmia, isolated 3, 611038, Autosomal recessive; MCOP3 (Isolated anophthalmia-microphthalmia syndrome) (RAX 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
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
Microphthalmia and Anophthalmia via the RAX Gene PreventionGenetics, part of Exact Sciences United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
qCarrier Plus Quantitative Genomic Medicine Laboratories, SL Spain	328	300	C Sequence analysis of the entire coding region
Invitae Microphthalmia, Anophthalmia, Coloboma (MAC) and Anterior Segment Dysgenesis Panel Invitae United States	130	81	D Deletion/duplication analysis
MitoMet®Plus aCGH Analysis Baylor Genetics United States	842	637	D Deletion/duplication analysis
Microphthalmia isolated 3 (sequence analysis of RAX gene) CGC Genetics Unilabs Portugal	1	1	C Sequence analysis of the entire coding region
Microphthalmia, isolated: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	7	7	C Sequence analysis of the entire coding region
Microphthalmia, Anophthalmia, and Coloboma Panel NGS Panel Fulgent Genetics United States	244	78	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Microphthalmia , Panel Massive Sequencing (NGS) 14 Genes Reference Laboratory Genetics Spain	16	14	C Sequence analysis of the entire coding region
ANOPHTHALMIA/ MICROPHTALMIA Laboratorio de Genetica Clinica SL Spain	7	9	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Anophthalmia/Microphthalmia/Coloboma/Anterior Segment Dysgenesis Asper Biogene Asper Biogene LLC Estonia	37	35	C Sequence analysis of the entire coding region
Microphthalmy Panel CeGaT GmbH Germany	13	26	C Sequence analysis of the entire coding region
Developmental Eye Disease panel Molecular Vision Laboratory United States	107	59	C Sequence analysis of the entire coding region
Microphthalmia-Anophthalmia-Coloboma Complex (MAC) MGZ Medical Genetics Center Germany	2	48	C Sequence analysis of the entire coding region
RAX Single Gene Fulgent Genetics United States	1	1	D Deletion/duplication analysis 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.