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Results: 21 to 40 of 51 (representing 23 labs)

Tests names and labsConditionsGenes and analytesMethods

Comprehensive Skeletal / Malformation Syndrome Panel

Blueprint Genetics
Finland
13429
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Pulmonology Panel

Blueprint Genetics
Finland
561
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Arthrogryposes Panel

Blueprint Genetics
Finland
158
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Congenital Myasthenic Syndrome Advanced Sequencing Evaluation

Athena Diagnostics Inc
United States
1713
  • C Sequence analysis of the entire coding region

Neurogenetic Disorders - panels

Medizinisch Genetisches Zentrum München MGZ München
Germany
14597
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Neuromuscular Panel

Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health and Science University
United States
679
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Congenital Myasthenic Syndrome Panel

Invitae
United States
2013
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Comprehensive Neuromuscular Disorders Panel

Invitae
United States
141104
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Congenital Myasthenic

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
2012
  • C Sequence analysis of the entire coding region

Catecholaminergic polymorphic ventricular tachycardia type 1

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

Myasthenic syndrome, congenital (sequence analysis of CHAT gene)

CGC Genetics
Portugal
11
  • C Sequence analysis of the entire coding region

Myasthenic syndrome, congenital (NGS panel for 17genes)

CGC Genetics
Portugal
1217
  • C Sequence analysis of the entire coding region

Congenital Myasthenic Syndromes and Arthrogryposis Panel

CeGaT GmbH
Germany
944
  • C Sequence analysis of the entire coding region

Muscle Weakness (Myopathy, Muscular Dystrophy)

Medizinisch Genetisches Zentrum München MGZ München
Germany
6179
  • C Sequence analysis of the entire coding region

Newborn: Neonatal Apneas

Medizinisch Genetisches Zentrum München MGZ München
Germany
213
  • C Sequence analysis of the entire coding region

Muscle Disease with Ptosis / External Ophthalmoplegia

Medizinisch Genetisches Zentrum München MGZ München
Germany
326
  • C Sequence analysis of the entire coding region

Newborn: “Floppy Infant “

Medizinisch Genetisches Zentrum München MGZ München
Germany
673
  • C Sequence analysis of the entire coding region

Congenital Myasthenic Syndrome (CMS)

Medizinisch Genetisches Zentrum München MGZ München
Germany
117
  • C Sequence analysis of the entire coding region

CHAT

Fulgent Genetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Congenital Myasthenic Syndrome NGS Panel

Fulgent Genetics
United States
1512
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 21 to 40 of 51

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.

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