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Results: 1 to 20 of 85

Tests names and labsConditionsGenes, analytes, and microbesMethods

Fragile X Syndrome, Repeat Number Analysis with Reflex to Methylation Analysis

Institute for Genomic Medicine (IGM) Clinical Laboratory Nationwide Children's Hospital
United States
61
  • M Methylation analysis
  • T Targeted variant analysis

Fragile X Tremor-Ataxia Syndrome

Genetics Laboratory Shodair Children's Hospital
United States
11
  • M Methylation analysis
  • T Targeted variant analysis

Carrier Screening - Comprehensive Panel (145 Genes)

Genesys Diagnostics Genesys Diagnostics, Inc.
United States
185145
  • D Deletion/duplication analysis
  • I Microsatellite instability testing (MSI)
  • X Mutation scanning of select exons
  • T Targeted variant analysis

Carrier Screening - Fragile X Syndrome (FMR1)

Genesys Diagnostics Genesys Diagnostics, Inc.
United States
31
  • I Microsatellite instability testing (MSI)

Fragile X Syndrome, Mol. Analysis

Mayo Clinic Laboratories Mayo Clinic
United States
41
  • M Methylation analysis
  • T Targeted variant analysis

Invitae FMR1-Fragile X Syndrome and Related Disorders Repeat Expansion Test

Invitae
United States
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae FMR1-Carrier

Invitae
United States
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Infertility Panel

Centogene AG - the Rare Disease Company
Germany
243238
  • D Deletion/duplication analysis
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

CentoScreen

Centogene AG - the Rare Disease Company
Germany
316314
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

FMR1 - Repeat expansion analysis

Centogene AG - the Rare Disease Company
Germany
31
  • T Targeted variant analysis

FMR1 - MLPA

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

FMR1 - Sanger sequencing

Centogene AG - the Rare Disease Company
Germany
31
  • C Sequence analysis of the entire coding region

Intellectual Disability Panel

Centogene AG - the Rare Disease Company
Germany
777770
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Autism Spectrum Disorders (ASD) Panel

PreventionGenetics, part of Exact Sciences
United States
224170
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Fragile X tremor/ataxia syndrome, 300623, X-linked dominant; FXTAS (Fragile X-associated tremor/ataxia syndrome) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Fragile X tremor/ataxia syndrome, 300623, X-linked dominant; FXTAS (Fragile X-associated tremor/ataxia syndrome)(Repeat Analysis)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • T Targeted variant analysis

Genomic UnityⓇ Ataxia Repeat Expansion Analysis (STR analysis of 16 loci)

Variantyx, Inc.
United States
1513
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region

Invitae Broad Carrier Screen

Invitae
United States
224112
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Comprehensive Carrier Screen

Invitae
United States
886547
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Ataxia Repeat Expansion Panel

Genetic Services Laboratory University of Chicago
United States
1313
  • X Mutation scanning of select exons

Results: 1 to 20 of 85

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.