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| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
SLURP1 Gene Mal de Meleda NGS Genetic DNA Test DNA Labs India India | 1 | 1 |
|
SLURP1 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 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 |
|
Hereditary ichthyosis (WES based NGS panel of 57 genes, including CNV analysis) CGC Genetics Unilabs Portugal | 1 | 57 |
|
CGC Genetics Unilabs Portugal | 1 | 277 |
|
Meleda disease (sequence analysis of SLURP1 gene) CGC Genetics Unilabs Portugal | 1 | 1 |
|
ICHTHYOSIFORM ERYTHRODERMA CONGENITAL EXOME PANEL Laboratorio de Genetica Clinica SL Spain | 1 | 60 |
|
Laboratorio de Genetica Clinica SL Spain | 1 | 60 |
|
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 |
|
Institute for Human Genetics University Medical Center Freiburg Germany | 1 | 1 |
|
NewbornDx Advanced Sequencing Evaluation Athena Diagnostics United States | 1 | 1722 |
|
Mal De Meleda (SLURP1 Single Gene Test) Fulgent Genetics United States | 1 | 1 |
|
Palmoplantar Keratoderma Panel Blueprint Genetics Finland | 2 | 25 |
|
TRANSGREDIENS PALMOPLANTAR KERATODERMA OF SIEMENS (MELEDA DISEASE) Laboratorio de Genetica Clinica SL Spain | 1 | 1 |
|
Bioarray Spain | 1 | 1 |
|
Ichthyoses and related disorders of cornification Panel CeGaT GmbH Germany | 42 | 65 |
|
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.