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Results: 1 to 20 of 37

Tests names and labsConditionsGenes, analytes, and microbesMethods

MVL Vision Panel

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

OPTN - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
31
  • D Deletion/duplication analysis
  • 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

CentoVision Panel

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

Amyotrophic Lateral Sclerosis (ALS) / Dementia Panel

Centogene AG - the Rare Disease Company
Germany
6466
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Hereditary Amyotrophic Lateral Sclerosis, Frontotemporal Dementia and Alzheimer Disease Panel 

Invitae
United States
7233
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Glaucoma Panel

Invitae
United States
5727
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal Dementia (FTD) Panel

PreventionGenetics, part of Exact Sciences
United States
4840
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Amyotrophic Lateral Sclerosis (ALS) Panel

PreventionGenetics, part of Exact Sciences
United States
3633
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Amyotrophic lateral sclerosis 12, 613435; ALS12 (Amyotrophic lateral sclerosis) (OPTN 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

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

MitoMet®Plus aCGH Analysis

Baylor Genetics
United States
842637
  • D Deletion/duplication analysis

Amyotrophic Lateral Sclerosis via the OPTN Gene

PreventionGenetics, part of Exact Sciences
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

OPTN

Institute for Human Genetics University Medical Center Freiburg
Germany
31
  • C Sequence analysis of the entire coding region

Amyotrophic lateral sclerosis panel. 32-gene NGS panel.

Genologica Medica
Spain
6632
  • C Sequence analysis of the entire coding region

Glaucoma panel. 18-gene NGS panel.

Genologica Medica
Spain
4418
  • C Sequence analysis of the entire coding region

OPTN Gene Sequencing by Massively Parallel Sequencing (BCM-NGSSM)

Baylor Genetics
United States
11
  • E Sequence analysis of select exons

OPTN Sequence Analysis (Familial Mutation/Variant Analysis)

Baylor Genetics
United States
11
  • T Targeted variant analysis

Frontotemporal dementia and/or Amyotrophic Lateral Sclerosis: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
3030
  • I Microsatellite instability testing (MSI)
  • C Sequence analysis of the entire coding region

Retinopathy and Optic Atrophy NGS Panel

Fulgent Genetics
United States
563241
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 37

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.