Filters
| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
Inherited Metabolic Disorders Panel Dhiti Omics Technologies Private Ltd India | 376 | 317 |
|
Metabolic liver failure panel. 16-gene NGS panel. Genologica Medica Spain | 19 | 16 |
|
Glycogen storage disorder panel. 29-gene NGS panel. Genologica Medica Spain | 33 | 29 |
|
Hypoglycemia, hyperinsulinism, and ketone metabolism panel. NGS panel of 50 genes. Genologica Medica Spain | 73 | 50 |
|
Glycogenosis (inherited metabolic disorders). NGS panel of 24 genes. Genologica Medica Spain | 30 | 24 |
|
General panel of metabolic myopathies Genologica Medica Spain | 114 | 110 |
|
Glycogen Storage Disorders Panel, Sequencing ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories United States | 40 | 32 |
|
Glycogen Storage Diseases Gene Panel Duzen Laboratories Duzen BBAGUAS Turkey | 28 | 26 |
|
PHKA2 Deletion/duplication analysis Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States | 1 | 1 |
|
HNL Genomics Connective Tissue Gene Tests United States | 44 | 45 |
|
PHKA2 Gene Sequencing by Massively Parallel Sequencing (BCM-NGSSM) Baylor Genetics United States | 1 | 1 |
|
PHKA2 Sequence Analysis (Familial Mutation/Variant Analysis) Baylor Genetics United States | 1 | 1 |
|
Al Jalila Children's Genomics Center Al Jalila Childrens Speciality Hospital United Arab Emirates | 10 | 10 |
|
Al Jalila Children's Genomics Center Al Jalila Childrens Speciality Hospital United Arab Emirates | 17 | 17 |
|
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 | 19 | 19 |
|
PHKA2 Sequencing and Deletion/Duplication Analysis DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children United States | 1 | 1 |
|
Comprehensive Metabolism NGS Panel Fulgent Genetics United States | 602 | 355 |
|
Fulgent Genetics United States | 71 | 53 |
|
Fulgent Genetics United States | 36 | 30 |
|
Phosphorylase Kinase Deficiency , Panel Massive Sequencing (NGS) PHKA1, PHKA2, PHKB, PHKG2 Genes Reference Laboratory Genetics Spain | 4 | 4 |
|
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.