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| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
Invitae Epidermolysis Bullosa and Palmoplantar Keratoderma Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 95 | 45 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Skin and Connective Tissue Disorders Panel PreventionGenetics, part of Exact Sciences United States | 124 | 69 |
|
Benign chronic pemphigus Deletion / Duplication Test HNL Genomics Connective Tissue Gene Tests United States | 1 | 1 |
|
Benign chronic pemphigus NGS Test HNL Genomics Connective Tissue Gene Tests United States | 1 | 1 |
|
Benign chronic pemphigus Comprehensive Test HNL Genomics Connective Tissue Gene Tests United States | 1 | 1 |
|
CGC Genetics Unilabs Portugal | 1 | 277 |
|
Hailey Hailey disease (sequence analysis of ATP2C1 gene) CGC Genetics Unilabs Portugal | 1 | 1 |
|
MITOCHONDRIAL DISEASES PANEL (NUCLEAR GENES) Laboratorio de Genetica Clinica SL Spain | 1 | 1372 |
|
ATP2C1. Complete sequencing by NGS Laboratorio de Genetica Clinica SL Spain | 1 | 1 |
|
Genologica Medica Spain | 122 | 68 |
|
Epidermolysis bullosa panel. NGS panel of 24 genes. Genologica Medica Spain | 55 | 24 |
|
Genomic Unity® Custom Analysis Variantyx, Inc. United States | 1 | 4054 |
|
Prenatal Known Familial Mutation GeneDx United States | 1 | 1716 |
|
Custom XomeDxSlice (2-150 Genes, Proband Only) GeneDx United States | 1 | 1718 |
|
GeneDx United States | 1 | 1040 |
|
Two Known Familial Variants in a Nuclear Gene GeneDx United States | 1 | 1043 |
|
One Known Familial Variant in a Nuclear Gene GeneDx United States | 1 | 1045 |
|
Institute for Human Genetics University Medical Center Freiburg Germany | 1 | 1 |
|
Benign Chronic Pemphigus (ATP2C1 Single Gene Test) Fulgent Genetics United States | 1 | 1 |
|
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.