Filters

See more specimen types...

Other countries

Results: 1 to 20 of 24

Tests names and labsConditionsGenes and analytesMethods

Spinal muscular atrophy, lower extremity, autosomal dominant, type 1

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

DYNC1H1. Complete sequencing

Instituto de Medicina Genomica
Spain
11
  • C Sequence analysis of the entire coding region

Distal Hereditary Motor Neuropathy Sequencing Panel

PreventionGenetics
United States
3022
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Charcot-Marie-Tooth disease, axonal, type 20, Spinal muscular atrophy with lower extremity predominance and Mental retardation, autosomal dominant type 13 via the DYNC1H1 Gene

PreventionGenetics
United States
31
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Neurodevelopment-Expanded

Ambry Genetics
United States
308196
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

IDNext

Ambry Genetics
United States
221140
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

EpiRapid reflex EpilepsyNext

Ambry Genetics
United States
168100
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

EpilepsyNext

Ambry Genetics
United States
168100
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CustomNext: Neuro

Ambry Genetics
United States
308196
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Spinal Muscular Atrophy and related Disorders , Panel Massive Sequencing (NGS) 19 Genes

Reference Laboratory Genetics
Spain
2019
  • C Sequence analysis of the entire coding region

Muscle Polyneuropathies , Panel Massive Sequencing (NGS) 111 Genes

Reference Laboratory Genetics
Spain
163111
  • C Sequence analysis of the entire coding region

Motor Neuron Disorder and Related Diseases , Panel Massive Sequencing (NGS) 49 Genes

Reference Laboratory Genetics
Spain
6049
  • C Sequence analysis of the entire coding region

Neuromuscular Disorders Panel

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
244144
  • C Sequence analysis of the entire coding region

Autosomal Dominant Spinal Muscular Atrophy Lower Extremity Predominant , Sequencing DYNC1H1 Gene

Reference Laboratory Genetics
Spain
11
  • C Sequence analysis of the entire coding region

Atypical Spinal Muscular Atrophy Advanced Sequencing Evaluation

Athena Diagnostics Inc
United States
1010
  • C Sequence analysis of the entire coding region

Invitae Hereditary Motor Neuropathy Panel

Invitae
United States
2422
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Comprehensive Neuropathies Panel

Invitae
United States
10070
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Spinal Muscular Atrophy (SMA) Panel

CeGaT GmbH
Germany
4427
  • C Sequence analysis of the entire coding region

Spinal Muscular Atrophy Panel

CeGaT GmbH
Germany
1127
  • C Sequence analysis of the entire coding region

DYNC1H1

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

Results: 1 to 20 of 24

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.

Support Center