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Results: 21 to 40 of 49

Tests names and labsConditionsGenes, analytes, and microbesMethods

Spinal muscular atrophy panel. 30-gene NGS panel.

Genologica Medica
Spain
6530
  • C Sequence analysis of the entire coding region

Carrier detection for spinal muscular atrophy by MLPA

Diagnostics Division CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS
India
11
  • D Deletion/duplication analysis

Prenatal diagnosis for Spinal Muscular Atrophy (known mutation) including maternal cell contamination

Diagnostics Division CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS
India
11
  • D Deletion/duplication analysis

Charcot-Marie-Tooth Panel, Comprehensive

CNH Molecular Diagnostics Laboratory Childrens National Hospital
United States
8530
  • C Sequence analysis of the entire coding region

Neuromuscular Panel, Comprehensive

CNH Molecular Diagnostics Laboratory Childrens National Hospital
United States
13862
  • C Sequence analysis of the entire coding region

Neuromuscular disorders - different panels

Institute of Human Genetics Cologne University
Germany
16474
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Charcot-Marie-Tooth Hereditary Neuropathy NGS Panel

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
7654
  • C Sequence analysis of the entire coding region

Spinal Muscular Atrophy NGS Panel

Fulgent Genetics
United States
9329
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Paroxysmal Extreme Pain Disorder NGS Panel

Fulgent Genetics
United States
18553
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Spinal Muscular Atrophy With Respiratory Distress Type 1 (IGHMBP2 Single Gene Test)

Fulgent Genetics
United States
11
  • 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
159111
  • C Sequence analysis of the entire coding region

SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS TYPE 1

Laboratorio de Genetica Clinica SL
Spain
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Neuromuscular Disorders NGS Panel

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
233144
  • C Sequence analysis of the entire coding region

Spinal Muscular Atrophy with Respiratory Failure, Deletions-Duplications (MLPA) IGHMBP2 Gene

Reference Laboratory Genetics
Spain
11
  • D Deletion/duplication analysis

Spinal Muscular Atrophy with Respiratory Failure, Sequencing IGHMBP2 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

SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 1

Bioarray
Spain
11
  • C Sequence analysis of the entire coding region

Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies, PMP22 Deletion/Duplication with Reflex to Sequencing Panel

ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories
United States
3478
  • 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

Results: 21 to 40 of 49

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.