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Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
---|---|---|---|
Pyridoxamine 5'-phosphate oxidase deficiency (deletion/duplication analysis on PNPO gene) CGC Genetics Unilabs Portugal | 1 | 1 |
|
LPAR6 Gene Hypotrichosis type 8 NGS Genetic DNA Test DNA Labs India India | 1 | 1 |
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LPAR6 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 1 | 1 |
|
Centogene AG - the Rare Disease Company Germany | 157 | 151 |
|
HNL Genomics Connective Tissue Gene Tests United States | 10 | 10 |
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Hypotrichosis Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States | 10 | 10 |
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Hypotrichosis Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States | 10 | 10 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
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Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
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Hypotrichosis Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States | 10 | 10 |
|
HNL Genomics Connective Tissue Gene Tests United States | 10 | 10 |
|
Hypotrichosis Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States | 10 | 10 |
|
Invitae Ectodermal Dysplasia and Related Disorders Panel Invitae United States | 148 | 73 |
|
Ectodermal dysplasia (WES based NGS panel of 42 genes, including CNV analysis) CGC Genetics Unilabs Portugal | 1 | 42 |
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Hypotrichosis (WES based NGS panel of 10 genes, including CNV analysis) CGC Genetics Unilabs Portugal | 1 | 10 |
|
CGC Genetics Unilabs Portugal | 1 | 277 |
|
Hypotrichosis simplex, type 8 (sequence analysis of LPAR6 gene) CGC Genetics Unilabs Portugal | 1 | 1 |
|
Laboratorio de Genetica Clinica SL Spain | 1 | 9 |
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ECTODERMAL DYSPLASIA EXOME PANEL Laboratorio de Genetica Clinica SL Spain | 1 | 110 |
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Genomic Unity® Custom Analysis Variantyx, Inc. United States | 1 | 4054 |
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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.