Filters
| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
Rickets due to defect in vitamin D 25-hydroxylation (sequence analysis of gene CYP2R1 gene) CGC Genetics Unilabs Portugal | 1 | 1 |
|
Neonatal Baby Cheek Screening Test Mendelics Brazil | 1 | 342 |
|
Mendelics Brazil | 1 | 333 |
|
Mendelics Brazil | 1 | 369 |
|
Laboratorio de Genetica Clinica SL Spain | 1 | 643 |
|
Hypophosphatemic rickets panel. NGS panel of 13 genes. Genologica Medica Spain | 25 | 13 |
|
Skeletal diseases. NGS panel of 169 genes. Genologica Medica Spain | 373 | 169 |
|
Vitamin D-dependent rickets, type 1B Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders Germany | 1 | 1 |
|
Hypophosphatasia and Hypophosphatemic Rickets Panel MNG Laboratories (Medical Neurogenetics, LLC.) United States | 11 | 10 |
|
Genetics Laboratory University of Oklahoma Health Sciences Center United States | 1 | 13 |
|
Congenital Hypotonia Xpanded Panel GeneDx United States | 10 | 1423 |
|
GeneDx United States | 2 | 2592 |
|
GeneDx United States | 1 | 1501 |
|
NewbornDx Advanced Sequencing Evaluation Athena Diagnostics United States | 1 | 1722 |
|
Abnormal Mineralization NGS Panel Fulgent Genetics United States | 77 | 30 |
|
Rare Kidney Stone Consortium And The Mayo Clinic Hyperoxaluria Center Mayo Clinic United States | 21 | 170 |
|
Hypophosphatemic Rickets Panel Genetic Services Laboratory University of Chicago United States | 1 | 19 |
|
Hypophosphatemic Rickets Panel Blueprint Genetics Finland | 1 | 13 |
|
Skeletal dysplasia with abnormal mineralization Panel CeGaT GmbH Germany | 14 | 16 |
|
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.