Clinical and research tests for 615877 - Genetic Testing Registry (GTR) - NCBI

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Results: 1 to 17 of 17

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Microphthalmia, syndromic 14, 615877, Autosomal recessive, Autosomal dominant; MCOPS14 (Colobomatous microphthalmia-rhizomelic dysplasia syndrome) (MAB21L2 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
Microphthalmia, syndromic 14, 615877, Autosomal recessive, Autosomal dominant; MCOPS14 (Colobomatous microphthalmia-rhizomelic dysplasia syndrome) (MAB21L2 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
MVL Vision Panel Molecular Vision Laboratory United States	1358	1028	C Sequence analysis of the entire coding region
MAB21L2 - 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
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
Polydactyly and Syndactyly Panel PreventionGenetics, part of Exact Sciences United States	320	231	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Syndactyly Panel PreventionGenetics, part of Exact Sciences United States	220	128	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
Colobomatous Microphthalmia and Skeletal Dysplasia Syndrome via the MAB21L2 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
Invitae Microphthalmia, Anophthalmia, Coloboma (MAC) and Anterior Segment Dysgenesis Panel Labcorp Genetics (formerly Invitae) LabCorp United States	130	81	D Deletion/duplication analysis
Microphthalmia, syndromic: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	14	11	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
MAB21L2 MGZ Medical Genetics Center Germany	1	1	C Sequence analysis of the entire coding region

Results: 1 to 17 of 17

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