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Results: 1 to 20 of 61

Tests names and labsConditionsGenes, analytes, and microbesMethods

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

Xpansion Interpreter

Asuragen Clinical Laboratory Asuragen, Inc
United States
21
  • T Targeted variant analysis

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

Labcorp Genetics (formerly Invitae) LabCorp
United States
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae FMR1-Carrier

Labcorp Genetics (formerly Invitae) LabCorp
United States
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

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

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

Premature ovarian failure 1, 311360, X-linked; POF1 (MLPA)

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

Premature ovarian failure 1, 311360, X-linked; POF1(Repeat Analysis)

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

Invitae Broad Carrier Screen

Labcorp Genetics (formerly Invitae) LabCorp
United States
224112
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Comprehensive Carrier Screen

Labcorp Genetics (formerly Invitae) LabCorp
United States
886547
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Fragile X Syndrome, Diagnostic

Molecular Diagnostic Laboratory LabCorp
United States
31
  • T Targeted variant analysis

X-Linked Intellectual Disability Panel

PreventionGenetics, part of Exact Sciences
United States
191141
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

FMR1 Sequence Analysis (Prenatal Diagnosis)

Baylor Genetics
United States
31
  • T Targeted variant analysis

FMR1 Sequence Analysis (Familial Mutation/Variant Analysis)

Baylor Genetics
United States
31
  • T Targeted variant analysis

FMR1 Sequence Analysis

Baylor Genetics
United States
31
  • C Sequence analysis of the entire coding region

Fragile X Syndrome via the FMR1 CGG Repeat Expansion

PreventionGenetics, part of Exact Sciences
United States
31
  • M Methylation analysis
  • I Microsatellite instability testing (MSI)

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.