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Results: 1 to 18 of 18

Tests names and labsConditionsGenes, analytes, and microbesMethods

Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2, 615422; IBMPFD2 (Inclusion body myopathy with Paget disease of bone and frontotemporal dementia) (HNRNPA2B1 gene) (Sequence Analysis-All Coding Exons) (Postn

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

Invitae Frontotemporal Dementia with C9orf72 Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
3014
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

HNRNPA2B1 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
11
  • 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

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 

Labcorp Genetics (formerly Invitae) LabCorp
United States
7233
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

NeuromuscularZoom

Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine
United States
480254
  • C Sequence analysis of the entire coding region

Paget disease of bone and related disorders Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
77
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Paget disease of bone and related disorders NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
77
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Paget disease of bone and related disorders Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
77
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Frontotemporal Dementia Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
2913
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Neuromuscular Panel

PreventionGenetics, part of Exact Sciences
United States
183142
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Comprehensive Myopathy Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
14370
  • D Deletion/duplication analysis

Invitae Comprehensive Neuromuscular Disorders Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
353208
  • D Deletion/duplication analysis

HNRNPA2B1 Sequence Analysis

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

HNRNPA2B1 Sequence Analysis (Familial Mutation/Variant Analysis)

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

HNRNPA2B1 Sequence Analysis (Prenatal Diagnosis)

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

Inclusion body myopathy / Paget disease / frontotemporal dementia: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
33
  • C Sequence analysis of the entire coding region

Results: 1 to 18 of 18

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