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| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
KRT16 Gene Pachyonychia congenita type 1 NGS Genetic DNA Test DNA Labs India India | 1 | 1 |
|
KRT16 Gene Palmoplantar keratoderma, nonepidermolytic, focal NGS Genetic DNA Test DNA Labs India India | 1 | 1 |
|
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 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
qGenEx Intellectual disability Quantitative Genomic Medicine Laboratories, SL Spain | 3 | 1969 |
|
Invitae Ectodermal Dysplasia and Related Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 148 | 73 |
|
CGC Genetics Unilabs Portugal | 1 | 277 |
|
PACHYONYCHIA CONGENITA EXOME PANEL Laboratorio de Genetica Clinica SL Spain | 1 | 7 |
|
ECTODERMAL DYSPLASIA EXOME PANEL Laboratorio de Genetica Clinica SL Spain | 1 | 110 |
|
Congenital pachyonychia panel. 7-gene NGS panel. Genologica Medica Spain | 10 | 7 |
|
Palmoplantar keratoderma panel. 25-gene NGS panel. Genologica Medica Spain | 62 | 25 |
|
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 | 2 | 1 |
|
NewbornDx Advanced Sequencing Evaluation Athena Diagnostics United States | 1 | 1722 |
|
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.