Filters
| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
PreventionGenetics, part of Exact Sciences United States | 38 | 38 |
|
Invitae Comprehensive Neuromuscular Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 353 | 208 |
|
Glycogen Storage Disease and Disorders of Glucose Metabolism Panel PreventionGenetics, part of Exact Sciences United States | 33 | 33 |
|
PHKB Deletion/Duplication Analysis Baylor Genetics United States | 1 | 1 |
|
PHKB Comprehensive - Sequence & Deletion/Duplication Analysis Baylor Genetics United States | 1 | 1 |
|
Glycogen Storage Disease Type IX via the PHKB Gene PreventionGenetics, part of Exact Sciences United States | 1 | 1 |
|
CGC Genetics Unilabs Portugal | 1 | 837 |
|
Movement diseases (WES based NGS panel of 931 genes, including CNV analysis) CGC Genetics Unilabs Portugal | 10 | 930 |
|
Hypoglycemia (WES based NGS panel of 62 genes, including CNV analysis) CGC Genetics Unilabs Portugal | 1 | 62 |
|
Glycogenosis (WES based NGS panel of 28 genes, including CNV analysis) CGC Genetics Unilabs Portugal | 1 | 28 |
|
Glycogen storage disease (WES based NGS panel of 22 genes, including analysis of CNVs) CGC Genetics Unilabs Portugal | 1 | 22 |
|
CGC Genetics Unilabs Portugal | 1 | 55 |
|
Glycogen storage disease type IXb (sequence analysis of PHKB gene) CGC Genetics Unilabs Portugal | 1 | 1 |
|
Neuromuscular Diseases Panel (Expanded) Mendelics Brazil | 1 | 288 |
|
Neonatal Baby Cheek Screening Test Mendelics Brazil | 1 | 342 |
|
Integrated Genetics Westborough LabCorp United States | 330 | 746 |
|
Targeted Variant, Fetal Analysis Integrated Genetics Westborough LabCorp United States | 292 | 746 |
|
Integrated Genetics Westborough LabCorp United States | 287 | 578 |
|
Integrated Genetics Westborough LabCorp United States | 292 | 597 |
|
Integrated Genetics Westborough LabCorp United States | 330 | 746 |
|
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.