Filters

See more specimen types...

Other countries

Results: 1 to 20 of 29

Tests names and labsConditionsGenes and analytesMethods

AllNeuro panel

Centogene AG - the Rare Disease Company
Germany
7861205
  • C Sequence analysis of the entire coding region

Myoadenylate deaminase deficiency

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

Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Sequencing Panel

PreventionGenetics
United States
7259
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

AMPD1. Complete sequencing

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

Rhabdomyolysis Panel: Tier 1, Whole Blood, Plasma and Urine

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
47
  • A Analyte
  • T Targeted variant analysis

Muscle Polyneuropathies , Panel Massive Sequencing (NGS) 111 Genes

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

Congenital Myopathy , Panel Massive Sequencing (NGS) 26 Genes

Reference Laboratory Genetics
Spain
2426
  • C Sequence analysis of the entire coding region

Expanded Neuromuscular Disorders: Deletion/Duplication Panel

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
15277
  • D Deletion/duplication analysis

Metabolic Myopathy and Rhabdomyolysis

Asper Biogene Asper Biogene LLC
Estonia
5943
  • 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

ADENOSINE MONOPHOSPHATE DEAMINASE DEFICIENCY (MYOADENYLATE DEAMINASE DEFICIENCY)

Laboratorio de Genetica Clinica SL
Spain
22
  • C Sequence analysis of the entire coding region

Adenosine Monophosphate Deaminase Deficiency , Sequencing AMPD1 Gene

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

Invitae Purine Metabolism Disorders Panel

Invitae
United States
159
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Myoadenylate deaminase deficiency

Labor Dr. Wisplinghoff
Germany
11
  • C Sequence analysis of the entire coding region

NGS Rhabdomyolysis and Metabolic Myopathies Panel

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
4647
  • C Sequence analysis of the entire coding region

NGS Rhabdomyolysis and Metabolic Myopathies Panel

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
4647
  • C Sequence analysis of the entire coding region

METABOLIC MYOPATHIES

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
2325
  • C Sequence analysis of the entire coding region

ADENOSINE MONOPHOSPHATE DEAMINASE 1

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

AMP deaminase deficiency (Q12X and P48L mutations on AMPD1 gene)

CGC Genetics
Portugal
11
  • T Targeted variant analysis

Single gene testing AMPD1

CeGaT GmbH
Germany
11
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 29

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