Clinical and research tests for 251750 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, 251750, Autosomal recessive; MSPKA (Glaucoma secondary to spherophakia/ectopia lentis and megalocornea) (LTBP2 gene) (Sequence Analysis-All Coding Exons) (P 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
LTBP2 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	3	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Connective Tissue Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	195	92	D Deletion/duplication analysis
Early-Onset High Myopia Panel PreventionGenetics, part of Exact Sciences United States	285	137	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Skeletal Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	624	349	D Deletion/duplication analysis
Invitae Limb and Digital Malformations Panel Labcorp Genetics (formerly Invitae) LabCorp United States	356	177	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Glaucoma Panel Labcorp Genetics (formerly Invitae) LabCorp United States	57	27	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Lysosomal Storage Disorders Panel PreventionGenetics, part of Exact Sciences United States	242	146	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	157	171	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Glaucoma Panel PreventionGenetics, part of Exact Sciences United States	38	24	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Central skeletal dysplasias panel. NGS panel of 111 genes. Genologica Medica Spain	258	111	C Sequence analysis of the entire coding region
Micromelic dysplasia panel. NGS panel of 27 genes. Genologica Medica Spain	83	27	C Sequence analysis of the entire coding region
Glaucoma panel. 18-gene NGS panel. Genologica Medica Spain	44	18	C Sequence analysis of the entire coding region
Ectopia lentis panel. 14-gene NGS panel. Genologica Medica Spain	26	14	C Sequence analysis of the entire coding region
Ectopia Lentis Asper Biogene Asper Biogene LLC Estonia	30	18	C Sequence analysis of the entire coding region
Ectopia Lentis NGS Panel Fulgent Genetics United States	49	15	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Micromelic Dysplasia NGS Panel Fulgent Genetics United States	140	24	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Optic Atrophy & Early Glaucoma NGS Panel Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States	40	34	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.