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Results: 1 to 20 of 61

Tests names and labsConditionsGenes, analytes, and microbesMethods

MAF Gene Cataract, pulverulent or cerulean, with or without microcornea NGS Genetic DNA Test

DNA Labs India
India
11
  • S Mutation scanning of the entire coding region

Tempus xT

Tempus AI
United States
2646
  • I Microsatellite instability testing (MSI)
  • C Sequence analysis of the entire coding region

FoundationOne® Heme

Foundation Medicine, Inc.
United States
2405
  • D Deletion/duplication analysis
  • R RNA analysis
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region

MVL Vision Panel

Molecular Vision Laboratory
United States
13581028
  • C Sequence analysis of the entire coding region

CentoNeuro Panel

Centogene AG - the Rare Disease Company
Germany
18861858
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Epilepsy Panel

Centogene AG - the Rare Disease Company
Germany
734744
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

CentoVision Panel

Centogene AG - the Rare Disease Company
Germany
417413
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Corneal Dystrophies Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
6533
  • D Deletion/duplication analysis

Endeavor

PathGroup
United States
73505
  • C Sequence analysis of the entire coding region

Invitae Glaucoma Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
5727
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Ayme-Gripp syndrome, 601088, Autosomal dominant; AYGRP (Aymé-Gripp syndrome) (MAF gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Ayme-Gripp syndrome, 601088, Autosomal dominant; AYGRP (Aymé-Gripp syndrome) (MAF gene) (Sequence Analysis-All Coding Exons) (Prenatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Cataract 21, multiple types, 610202, Autosomal dominant; CTRCT21 (Early-onset non-syndromic cataract) (MAF gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

qGenEx Intellectual disability

Quantitative Genomic Medicine Laboratories, SL
Spain
31969
  • S Mutation scanning of the entire coding region
  • C Sequence analysis of the entire coding region

Anterior Segment Dysgenesis Disorders Panel

PreventionGenetics, part of Exact Sciences
United States
272278
  • 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
157171
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Cataract

Amplexa Genetics Amplexa Genetics A/S
Denmark
147
  • S Mutation scanning of the entire coding region

Corneal Dystrophies Panel

PreventionGenetics, part of Exact Sciences
United States
4027
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Congenital Cataracts and Ayme-Gripp Syndrome via the MAF Gene

PreventionGenetics, part of Exact Sciences
United States
21
  • 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
3824
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Results: 1 to 20 of 61

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.