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Results: 1 to 14 of 14

Tests names and labsConditionsGenes, analytes, and microbesMethods

NGS Panel for Neurodegeneration with Brain Iron Accumulation Disorders (NBIA)

BloodGenetics
Spain
3933
  • C Sequence analysis of the entire coding region

Invitae Frontotemporal Dementia with C9orf72 Panel

Invitae
United States
3014
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Comprehensive Neurometabolic Disorders Panel

Invitae
United States
351249
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

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

Bone Fragility and Fracture Panel

PreventionGenetics
United States
8774
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, 617145, Autosomal recessive; NADGP (SQSTM1 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

Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, 617145, Autosomal recessive; NADGP (SQSTM1 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

NeuromuscularZoom

Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital
United States
480254
  • C Sequence analysis of the entire coding region

Ataxia Exome

Genetic Services Laboratory University of Chicago
United States
289481
  • C Sequence analysis of the entire coding region

Invitae Frontotemporal Dementia Panel

Invitae
United States
2913
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

SQSTM1

Institute for Human Genetics University Medical Center Freiburg
Germany
41
  • 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

Congenital Myopathy and Distal Myopathy NGS panel

Asper Biogene Asper Biogene LLC
Estonia
7841
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hereditary Ataxia

Asper Biogene Asper Biogene LLC
Estonia
180139
  • C Sequence analysis of the entire coding region

Results: 1 to 14 of 14

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