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Results: 21 to 40 of 49

Tests names and labsConditionsGenes, analytes, and microbesMethods

PGAM2 Sequence Analysis

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

MitoMet®Plus aCGH Analysis

Baylor Genetics
United States
842637
  • D Deletion/duplication analysis

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

Glycogen Storage Disorders Panel, Sequencing

ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories
United States
4032
  • C Sequence analysis of the entire coding region

Glycogen Storage Diseases Gene Panel

Duzen Laboratories Duzen BBAGUAS
Turkey
2826
  • C Sequence analysis of the entire coding region

PGAM2 Deletion/duplication analysis

Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center
United States
11
  • D Deletion/duplication analysis

PGAM2 Sequence Analysis (Familial Mutation/Variant Analysis)

Baylor Genetics
United States
11
  • E Sequence analysis of select exons

Glycogen Storage Disease Gene Sequencing Panel

Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center
United States
1919
  • C Sequence analysis of the entire coding region

Comprehensive Metabolism NGS Panel

Fulgent Genetics
United States
602355
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Phosphoglycerate Mutase Deficiency (PGAM2 Single Gene Test)

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

Glycogen-Storage NGS Panel

Fulgent Genetics
United States
3630
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Metabolic Myopathy and Rhabdomyolysis

Asper Biogene Asper Biogene LLC
Estonia
6344
  • C Sequence analysis of the entire coding region

Glycogen Storage Disease

Asper Biogene Asper Biogene LLC
Estonia
2525
  • C Sequence analysis of the entire coding region

MUSCLE PHOSPHOGLYCERATE MUTASE DEFICIENCY (PGAMD)

Laboratorio de Genetica Clinica SL
Spain
12
  • C Sequence analysis of the entire coding region

GLYCOGEN STORAGE DISEASE, TYPE 10

Laboratorio de Genetica Clinica SL
Spain
11
  • 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.