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Results: 21 to 40 of 64

Tests names and labsConditionsGenes, analytes, and microbesMethods

Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Panel

PreventionGenetics, part of Exact Sciences
United States
10683
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Metabolic Hypoglycemia Panel

PreventionGenetics, part of Exact Sciences
United States
3838
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Metabolic Newborn Screening Confirmation Panel

Invitae
United States
201158
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Congenital Disorders of Glycosylation Panel

Invitae
United States
203152
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Galactosemia Panel

Invitae
United States
97
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Comprehensive Neuromuscular Disorders Panel

Invitae
United States
353208
  • D Deletion/duplication analysis

PGM1 Deletion/Duplication Analysis

Baylor Genetics
United States
11
  • D Deletion/duplication analysis

PGM1 Sequence Analysis

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

PGM1 Comprehensive - Sequence & Deletion/Duplication Analysis

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

PGM1 Sequence Analysis (Prenatal Diagnosis)

Baylor Genetics
United States
11
  • T Targeted variant analysis

MitoMet®Plus aCGH Analysis

Baylor Genetics
United States
842637
  • D Deletion/duplication analysis

PGM1

Institute of Human Genetics Medical University Innsbruck
Austria
31
  • C Sequence analysis of the entire coding region

PGM1

Institute for Human Genetics University Medical Center Freiburg
Germany
11
  • C Sequence analysis of the entire coding region

Inherited Metabolic Disorders Panel

Dhiti Omics Technologies Private Ltd
India
376317
  • C Sequence analysis of the entire coding region

Metabolic myopathy and rhabdomyolysis panel. NGS panel of 52 genes.

Genologica Medica
Spain
8952
  • C Sequence analysis of the entire coding region

Glycogen storage disorder panel. 29-gene NGS panel.

Genologica Medica
Spain
3329
  • C Sequence analysis of the entire coding region

Hypoglycemia, hyperinsulinism, and ketone metabolism panel. NGS panel of 50 genes.

Genologica Medica
Spain
7350
  • C Sequence analysis of the entire coding region

Glycogenosis (inherited metabolic disorders). NGS panel of 24 genes.

Genologica Medica
Spain
3024
  • C Sequence analysis of the entire coding region

General panel of metabolic myopathies

Genologica Medica
Spain
114110
  • C Sequence analysis of the entire coding region

Panel of congenital disorders of glycosylation. NGS panel of 47 genes.

Genologica Medica
Spain
5547
  • C Sequence analysis of the entire coding region

Results: 21 to 40 of 64

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.