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Results: 1 to 20 of 29 (representing 18 labs)

Tests names and labsConditionsGenes and analytesMethods

AllNeuro panel

Centogene AG - the Rare Disease Company
Germany
7851205
  • C Sequence analysis of the entire coding region

Myoglobinuria acute recurrent

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

Disorders of Fatty Acid Oxidation Sequencing Panel

PreventionGenetics
United States
2527
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Sequencing Panel

PreventionGenetics
United States
7360
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

LPIN1. Complete sequencing

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

Fatty Acid Oxidation Panel (MitomeNGS)

Baylor Miraca Genetics Laboratories
United States
1617
  • C Sequence analysis of the entire coding region

LPIN1 Sequence Analysis (Prenatal Diagnosis)

Baylor Miraca Genetics Laboratories
United States
11
  • T Targeted variant analysis

LPIN1 Deletion/Duplication Analysis

Baylor Miraca Genetics Laboratories
United States
11
  • D Deletion/duplication analysis

LPIN1 Sequence Analysis

Baylor Miraca Genetics Laboratories
United States
11
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

LPIN1 Comprehensive - Sequence & Deletion/Duplication Analysis

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

MitoMet®Plus aCGH Analysis

Baylor Miraca Genetics Laboratories
United States
845637
  • D Deletion/duplication analysis

Paroxysmal Paralytic Rhabdomyolysis via the LPIN1 Gene

PreventionGenetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Paroxysmal Paralytic Rhabdomyolysis via the LPIN1 Gene, Exons 18-19 Deletion Test

PreventionGenetics
United States
11
  • T Targeted variant analysis

Recurrent Myoglobinuria , Sequencing LPIN1 Gene

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

Neuromuscular Comprehensive Panel

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
454305
  • D Deletion/duplication analysis
  • 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

Recurrent Acute Myoglobinuria

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

Single gene testing LPIN1

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.

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